Q969G3
PR
Gene name |
SMARCE1 (BAF57) |
Protein name |
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1 |
Names |
BRG1-associated factor 57, BAF57 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6605 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
325 variants for Q969G3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA399370975 RCV000704088 rs1413469817 |
10 | P>S | Familial meningioma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002560210 rs2037247946 RCV001195852 |
12 | T>P | Familial meningioma Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs142279746 RCV001024549 RCV000471993 CA8545329 |
19 | M>I | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA8545325 RCV001298741 rs760888905 |
29 | N>S | Variant assessed as Somatic; 0.0 impact. Familial meningioma [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs1162139233 CA399369858 RCV000802647 |
32 | S>G | Familial meningioma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001019546 rs1597749777 RCV001873317 CA399369850 |
32 | S>N | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001208204 rs1597749763 CA399369770 RCV001017350 |
37 | N>S | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001009988 rs915901827 CA290557478 |
38 | N>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs570462841 CA399369644 RCV001325872 |
44 | N>K | Familial meningioma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
RCV002379572 CA8545321 rs761846539 RCV001057296 |
44 | N>T | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA399369626 RCV001210558 rs1249552995 |
45 | P>L | Familial meningioma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
COSM472736 RCV001206269 CA399369629 RCV001011121 rs1597749741 |
45 | P>S | kidney Familial meningioma Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001316777 rs2037209184 |
46 | G>D | Familial meningioma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060501394 RCV001011912 CA16615629 RCV000466477 |
50 | R>Q | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399369528 RCV001012030 rs1597749716 |
51 | V>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399369526 RCV001233241 rs1597749716 |
51 | V>G | Familial meningioma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399369538 RCV000564205 rs1555606273 |
51 | V>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399367972 rs1353575590 RCV001049325 COSM186517 |
58 | T>M | Familial meningioma large_intestine Variant assessed as Somatic; impact. [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
VAR_068215 RCV000193407 CA206873 rs387906857 COSM1645009 RCV000023251 |
73 | Y>C | salivary_gland Coffin-Siris syndrome 5 Familial meningioma central_nervous_system CSS5 [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
CA10576104 RCV000211089 VAR_076932 rs387906857 |
73 | Y>S | Coffin-Siris syndrome 5 CSS5 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1555605893 CA399367732 RCV000623351 |
76 | Y>C | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2037147392 RCV001315236 |
83 | Q>R | Familial meningioma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399367436 rs1555605795 RCV000677665 |
92 | K>N | Coffin-Siris syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2037147129 RCV001246188 |
93 | L>F | Familial meningioma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2037147008 RCV001232072 |
101 | G>D | Familial meningioma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397509407 RCV000049255 CA143948 |
104 | W>* | Familial meningioma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16615351 RCV000466082 rs1060501395 |
105 | R>* | Familial meningioma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2037146794 RCV001342308 RCV002322283 |
111 | E>G | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs878854601 CA10583542 RCV000231191 RCV002321872 |
111 | E>Q | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2037146773 RCV001226002 |
114 | E>* | Familial meningioma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1131691457 RCV001851353 CA399366993 RCV000493200 |
118 | E>K | Familial meningioma Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
| VAR_071873 | 125 | E>GLHRFIVL | MNGMA; found in a case of childhood clear cell meningioma; associated with disease susceptibility [UniProt] | Yes | UniProt |
|
RCV001041536 rs762580699 CA8545252 |
125 | E>Q | Familial meningioma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001218245 CA8545250 rs769255223 |
129 | S>Y | Familial meningioma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002476252 RCV000688644 rs771308672 RCV000570816 CA8545247 |
138 | A>T | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA399366628 rs1555605752 RCV000568108 |
139 | Y>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001338084 RCV002329304 rs2037143160 |
141 | A>T | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8545244 RCV001058011 rs772432672 RCV001022199 |
143 | I>V | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000525835 CA8545242 rs779169160 |
147 | S>N | Familial meningioma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002329327 CA290553167 rs147065057 RCV001345420 |
148 | R>C | Familial meningioma Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP NCI-TCGA dbSNP |
|
RCV002464364 RCV001057622 RCV002327325 CA8545241 rs755039445 |
148 | R>H | Variant assessed as Somatic; 0.0 impact. Familial meningioma Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2037142942 RCV001219270 |
149 | A>V | Familial meningioma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000638929 rs1555605750 |
152 | A>missing | Familial meningioma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001340069 RCV001022694 rs781231331 CA8545239 |
152 | A>V | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001058601 CA8545238 rs757138170 |
158 | R>Q | Familial meningioma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1555605748 RCV000561525 CA399366396 RCV000537940 |
161 | Q>R | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs878854602 RCV000228884 CA10583541 |
162 | S>T | Familial meningioma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000638927 CA8545237 rs190432371 RCV001023191 |
163 | R>C | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs762623799 RCV002341312 RCV000548430 COSM978917 CA8545236 |
163 | R>H | Variant assessed as Somatic; 0.0 impact. Familial meningioma Hereditary cancer-predisposing syndrome endometrium [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002339216 CA8545234 rs752296357 RCV001043207 |
164 | M>V | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001063181 rs775997908 CA8545231 RCV002339312 |
169 | P>L | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA399366295 rs1555605744 RCV000638912 |
170 | Y>C | Familial meningioma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002339634 RCV001231449 rs2037142335 |
171 | M>V | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001064954 RCV002339325 rs2037142277 |
172 | S>N | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002339526 rs2037142228 RCV001206507 |
173 | I>V | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000231727 rs878854603 |
176 | A>missing | Familial meningioma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001299023 rs1160889864 CA399366195 |
179 | P>L | Familial meningioma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA399366188 rs1597746024 RCV001024020 |
180 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2037142009 RCV001242726 |
180 | D>V | Familial meningioma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001024127 rs1429023644 CA399364957 |
182 | Y>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001204271 rs2037103551 RCV002348663 |
183 | D>N | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8545211 RCV001245372 RCV001024338 rs765003978 |
188 | M>V | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs397509408 RCV000049256 |
192 | A>missing | Familial meningioma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001205024 CA399364831 rs1319163552 |
193 | T>I | Familial meningioma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000624197 rs753397709 RCV001024560 RCV000691408 CA8545209 |
194 | A>T | Familial meningioma Hereditary cancer-predisposing syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1303849808 CA399364820 RCV001346707 |
195 | R>H | Familial meningioma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA399364807 RCV001024672 rs1597743632 |
197 | Q>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM1382996 RCV000701378 CA399364778 rs1567845807 |
201 | R>C | Familial meningioma large_intestine Variant assessed as Somatic; impact. [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
COSM3819504 CA8545207 RCV002356985 rs761299232 RCV001229620 |
201 | R>H | Variant assessed as Somatic; 0.0 impact. Familial meningioma Hereditary cancer-predisposing syndrome breast [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs797045990 RCV000194068 RCV001731516 |
208 | S>missing | Familial meningioma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8545204 rs376327613 RCV000458273 RCV001025267 |
215 | V>I | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1213211505 RCV001208170 CA399364677 |
216 | R>Q | Familial meningioma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs768981981 RCV001233685 RCV002366039 CA8545202 |
229 | R>Q | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002360935 CA8545198 RCV000797821 rs745924628 |
236 | V>I | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001311880 rs397509405 RCV000049253 CA143945 RCV003162427 |
239 | R>* | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399364516 RCV001862354 RCV001026112 rs1240408861 |
239 | R>Q | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2037096994 RCV001806104 RCV001302311 RCV002384362 |
248 | I>L | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001026513 CA399364440 RCV001050410 rs1555605350 |
250 | E>D | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1057518166 RCV000412917 CA16043112 RCV001389940 |
251 | R>* | Familial meningioma Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1555605347 CA399364425 RCV000532842 |
253 | Q>* | Familial meningioma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001221321 rs2037096715 |
255 | K>R | Familial meningioma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000765350 RCV001026703 rs542193901 CA8545173 RCV000472542 |
256 | K>R | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001026688 rs769002311 RCV001862378 |
256 | K>missing | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002404787 CA399364392 RCV000638922 rs542193901 |
256 | K>T | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001260867 rs2037096557 |
258 | K>missing | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555605342 CA399364244 RCV000638920 |
264 | D>N | Familial meningioma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2037096315 RCV001035369 |
268 | N>S | Familial meningioma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2037096217 RCV001037949 |
272 | R>S | Familial meningioma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000638924 rs1413987767 CA399363995 RCV002424413 |
274 | C>Y | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1555605260 RCV000566881 CA399363983 |
275 | G>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001027312 rs745448272 CA8545151 RCV000638923 |
275 | G>S | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001316061 rs2037087580 |
278 | V>I | Familial meningioma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001017784 rs1597742553 RCV001040383 CA399363907 |
282 | M>V | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001297566 rs2037087393 |
285 | I>missing | Familial meningioma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597742548 RCV000805581 CA399363859 |
285 | I>T | Familial meningioma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002411790 rs751048883 RCV001214249 CA8545148 |
286 | A>T | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002464445 RCV001299097 rs201158885 CA8545147 RCV002447281 |
287 | A>G | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA399363829 rs1395650269 RCV000575654 RCV000556662 |
290 | A>T | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001018198 RCV001726414 RCV001237941 rs758923998 CA8545146 |
290 | A>V | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001230520 rs2037087179 |
291 | Q>* | Familial meningioma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1307270981 RCV001232388 CA399363821 RCV001018240 |
291 | Q>R | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001044818 rs2037087059 |
295 | Q>H | Familial meningioma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001201845 RCV002375127 rs2037087035 |
296 | A>G | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8545144 rs562702157 RCV001018460 RCV000808660 |
297 | R>C | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs562702157 CA399363769 RCV001217702 |
297 | R>G | Familial meningioma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001050420 COSM271532 rs1172017371 RCV001018507 CA399363765 |
297 | R>H | Variant assessed as Somatic; 0.0 impact. Familial meningioma large_intestine Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV002372782 RCV001044100 rs956654252 CA290549122 |
298 | K>R | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399363746 RCV000638917 rs1555605248 |
299 | R>M | Familial meningioma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555605248 RCV001237377 |
299 | R>T | Familial meningioma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8545141 rs766568737 RCV001044513 |
300 | Q>R | Familial meningioma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA399363725 RCV001295099 rs1442599198 |
301 | E>K | Familial meningioma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs760713355 RCV001348655 CA8545140 |
302 | E>D | Familial meningioma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2037086696 RCV001058030 |
303 | R>S | Familial meningioma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001209502 rs2037086571 |
307 | A>T | Familial meningioma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000467326 CA8545138 RCV001019055 rs372988818 |
308 | A>T | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA8545137 rs768536854 RCV000638913 RCV001019177 |
311 | A>V | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001050238 rs2037086336 |
312 | E>G | Familial meningioma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8545134 RCV000809825 rs769672368 RCV001019227 |
313 | R>C | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8545132 RCV000560936 RCV001571137 rs201577008 RCV000530422 |
313 | R>H | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA399363517 RCV002442747 rs1597742452 RCV000820034 |
315 | Q>E | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002369950 CA399363500 rs1307734637 RCV000703676 |
316 | S>N | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2037085970 RCV001040340 |
317 | S>missing | Familial meningioma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000805777 CA8545128 rs758831830 RCV002381772 |
319 | V>A | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
COSM978915 rs140414666 RCV002374765 RCV002307503 RCV000462673 CA8545129 RCV002265769 |
319 | V>I | Coffin-Siris syndrome 5 Variant assessed as Somatic; 0.0 impact. Familial meningioma Hereditary cancer-predisposing syndrome endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1176390337 RCV002384106 CA399363442 RCV000557241 |
320 | P>S | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002375307 rs925142025 RCV001248586 CA290549022 |
321 | E>K | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1555605231 CA399363361 RCV000638921 |
324 | Q>L | Familial meningioma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001054344 rs2037085537 |
329 | G>D | Familial meningioma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001019862 CA8545125 rs755389218 RCV000687110 |
330 | E>K | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001065458 RCV000575019 CA290548972 rs750483952 |
334 | D>E | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001009662 rs767569116 CA8545119 RCV000638915 |
335 | D>N | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA399363152 rs1323477202 RCV002424896 RCV000809768 |
336 | E>D | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs377136485 RCV000638928 RCV000563096 CA8545117 |
336 | E>K | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2037085057 RCV001331016 RCV001063210 RCV002451270 |
337 | N>Y | Coffin-Siris syndrome 5 Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8545115 RCV001016948 rs759470808 |
338 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
rs1060501398 RCV000468382 RCV001017011 CA16615326 |
339 | P>L | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs746602244 RCV001223197 CA8545112 RCV001009699 |
340 | M>T | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000554024 rs367908836 CA8545111 |
342 | T>R | Familial meningioma [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1597741316 RCV001772131 RCV001009739 CA399361857 RCV000819038 |
345 | T>P | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597741310 RCV000819719 CA399361832 |
345 | T>R | Familial meningioma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002546436 RCV001331017 rs751700497 |
346 | H>N | Coffin-Siris syndrome 5 Familial meningioma [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM3764597 rs1597741306 RCV000806049 CA399361812 RCV001017101 |
346 | H>Q | Familial meningioma Hereditary cancer-predisposing syndrome central_nervous_system [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000820543 RCV002390689 CA8545073 rs267604854 |
347 | L>V | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2037063064 RCV001041954 |
348 | E>G | Familial meningioma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8545072 RCV001055296 rs754993965 RCV002393275 |
348 | E>K | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA290547604 rs932391748 RCV001017143 |
351 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001041111 rs932391748 |
351 | T>R | Familial meningioma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001017154 CA399361707 RCV000638919 rs1198138077 |
352 | E>G | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001203069 rs2037062951 |
353 | S>G | Familial meningioma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001041112 rs2037062951 |
353 | S>R | Familial meningioma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399361622 rs1567844710 RCV000695157 |
355 | Q>R | Familial meningioma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002406373 RCV000638926 CA8545071 rs151220618 |
356 | N>S | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000474770 RCV003151775 rs765354113 RCV000575784 |
359 | E>missing | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001357641 CA8545069 RCV000232537 RCV000501263 RCV000570442 rs142193069 |
360 | G>D | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP TOPMed dbSNP |
|
rs976928947 RCV001009863 RCV001053773 CA290547600 |
360 | G>R | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs766200637 CA8545068 RCV000532044 |
361 | T>M | Familial meningioma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs750183985 CA8545066 RCV001017238 RCV001860858 |
362 | S>P | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000552692 CA399361498 RCV002431593 rs1555605096 |
363 | T>A | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001223698 rs2037062544 |
363 | T>S | Familial meningioma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000638925 rs1555605093 |
364 | P>missing | Familial meningioma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs773859296 CA8545063 RCV000457140 RCV001017267 |
365 | E>D | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2037062233 RCV001061298 |
368 | E>* | Familial meningioma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001302312 RCV003166702 rs2037062159 |
368 | E>D | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399361419 rs1555605086 RCV000545402 |
368 | E>G | Familial meningioma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002436964 RCV001244811 rs2037062100 |
370 | G>V | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2037061989 RCV001061126 |
372 | E>A | Familial meningioma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001009888 RCV001061702 CA399361293 rs1597741256 |
374 | V>A | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001204269 rs1165295357 |
374 | V>L | Familial meningioma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002440634 RCV000794966 rs746301638 CA8545058 |
375 | D>N | Variant assessed as Somatic; 0.0 impact. Familial meningioma Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001305307 rs2037061648 |
376 | S>G | Familial meningioma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8545057 rs781353760 RCV000685599 RCV002325352 |
377 | M>V | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8545056 RCV002323956 RCV000534132 rs771281023 |
378 | A>V | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1597741244 RCV001009971 |
379 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399361167 rs1597741239 RCV000823554 |
382 | T>A | Familial meningioma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1322064785 CA399361155 RCV001017461 |
383 | S>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000558729 CA399361151 rs1555605079 |
383 | S>N | Familial meningioma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597741226 CA399361112 RCV000820394 |
385 | S>R | Familial meningioma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555605077 RCV000638916 CA399361107 |
386 | N>D | Familial meningioma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1270010378 CA399361091 RCV001320009 |
387 | T>P | Familial meningioma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001309842 rs376181802 CA8545052 |
389 | S>L | Familial meningioma [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001347486 rs376181802 |
389 | S>W | Familial meningioma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002327340 RCV001063426 rs2037060934 |
390 | E>D | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399361024 RCV001220510 rs1298633600 |
391 | S>T | Familial meningioma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001340906 rs2037060809 |
392 | N>D | Familial meningioma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001236652 rs775907713 CA290547444 |
393 | S>G | Familial meningioma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001010163 RCV000801795 CA399360974 rs1597741198 |
394 | A>T | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2037060453 RCV003163606 RCV001211240 |
399 | P>A | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399360846 RCV001010319 rs1597741187 |
402 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002356667 CA16615343 rs1060501396 RCV000460521 |
404 | I>M | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs751165188 RCV000537058 RCV000574229 CA8545046 |
404 | I>V | Variant assessed as Somatic; 0.0 impact. Familial meningioma Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002352399 CA8545045 RCV000809958 rs767835921 |
405 | P>A | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001209992 rs2037060002 |
406 | E>A | Familial meningioma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs139178605 RCV001323052 RCV002366189 CA8545043 |
407 | D>N | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002360763 CA399360740 RCV000694711 rs1487515718 |
408 | E>K | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001010428 RCV001061672 CA8545042 rs770346178 |
409 | K>R | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA8545040 RCV000573486 RCV000230777 RCV001689758 rs62622817 |
411 | E>* | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001010460 RCV000797537 CA8545041 RCV003151812 rs62622817 |
411 | E>K | Familial meningioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1280576677 CA399370992 |
8 | A>V | No |
ClinGen gnomAD |
|
|
CA399370978 rs1415603265 |
9 | P>L | No |
ClinGen gnomAD |
|
|
CA399370938 rs1398882535 |
13 | P>S | No |
ClinGen TOPMed |
|
|
CA399370913 rs1410345162 |
16 | A>T | No |
ClinGen TOPMed |
|
|
rs979272847 CA290557588 |
18 | Q>L | No |
ClinGen TOPMed |
|
| TCGA novel | 19 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399369978 rs1371633265 |
23 | P>A | No |
ClinGen gnomAD |
|
|
CA290557501 rs968715592 |
35 | A>T | No |
ClinGen TOPMed |
|
|
rs767656838 CA8545322 |
36 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1418428626 CA399369739 |
39 | Y>H | No |
ClinGen gnomAD |
|
|
rs11548762 CA290557467 |
46 | G>S | No |
ClinGen Ensembl |
|
|
CA290557465 rs909376128 |
52 | T>M | No |
ClinGen gnomAD |
|
| TCGA novel | 55 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs12103928 CA16602191 |
61 | K>N | No |
ClinGen Ensembl |
|
|
CA399367867 rs1268952356 |
65 | P>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 67 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 70 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs62066644 CA290554377 |
73 | Y>H | No |
ClinGen Ensembl |
|
| TCGA novel | 75 | R>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399367492 rs1163711259 |
88 | N>S | No |
ClinGen TOPMed |
|
|
CA399367413 RCV000489341 rs1085307924 |
94 | W>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA399367339 rs1386395578 |
98 | K>R | No |
ClinGen TOPMed |
|
|
CA399367247 rs1293539431 |
103 | M>I | No |
ClinGen TOPMed |
|
|
rs397509407 RCV000479805 CA16620402 |
104 | W>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV001093345 rs2037146907 |
105 | R>Q | No |
ClinVar dbSNP |
|
|
RCV000658188 rs1555605789 CA399367193 |
107 | L>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA8545270 rs372964610 |
110 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs538476076 CA290553203 |
136 | S>A | No |
ClinGen Ensembl |
|
|
CA8545246 rs747470831 |
138 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399366601 rs1567847087 |
142 | Y>F | No |
ClinGen Ensembl |
|
|
rs748318573 CA8545243 |
146 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 150 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399366430 COSM978918 rs1251821702 |
158 | R>* | large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 160 | R>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762623799 CA8545235 |
163 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764773654 CA8545233 |
167 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA8545213 rs758236381 |
182 | Y>F | No |
ClinGen ExAC |
|
|
rs1211085368 CA399364913 |
185 | G>V | No |
ClinGen gnomAD |
|
|
CA399364885 rs1567845843 |
188 | M>T | No |
ClinGen Ensembl |
|
|
CA399364846 rs1384165093 |
191 | T>K | No |
ClinGen TOPMed |
|
|
CA399364834 rs1356156358 |
193 | T>A | No |
ClinGen TOPMed |
|
|
CA399364835 rs1356156358 |
193 | T>P | No |
ClinGen TOPMed |
|
|
rs753397709 CA399364828 |
194 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA290550366 rs75329866 |
198 | R>K | No |
ClinGen Ensembl |
|
|
rs1597743626 CA399364793 |
199 | N>T | No |
ClinGen Ensembl |
|
|
CA399364740 rs1460773106 |
206 | I>M | No |
ClinGen TOPMed |
|
|
rs1199010778 CA399364713 |
210 | S>N | No |
ClinGen Ensembl |
|
|
CA8545206 rs773810706 |
210 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA290550307 rs950368790 |
222 | A>V | No |
ClinGen TOPMed |
|
|
CA290550300 rs141619224 |
229 | R>W | No |
ClinGen ESP |
|
|
CA8545201 rs749414590 |
231 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA290550294 rs1026195254 |
232 | Q>* | No |
ClinGen TOPMed |
|
|
CA399364507 rs1378722776 |
240 | K>N | No |
ClinGen gnomAD |
|
|
CA8545178 rs772007304 |
241 | L>P | No |
ClinGen ExAC |
|
| TCGA novel | 246 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1356231337 CA16622086 |
247 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs879117766 CA290549689 |
247 | Q>R | No |
ClinGen Ensembl |
|
|
CA399364457 rs1385767772 |
248 | I>T | No |
ClinGen gnomAD |
|
|
CA399364445 rs1295234583 |
250 | E>Q | No |
ClinGen gnomAD |
|
|
CA399364436 rs778796615 |
251 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs778796615 CA8545176 |
251 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1196782569 CA399364360 |
257 | R>S | No |
ClinGen gnomAD |
|
|
rs1425674530 CA399364316 |
260 | L>V | No |
ClinGen gnomAD |
|
|
rs1432681998 CA399364278 |
262 | S>G | No |
ClinGen gnomAD |
|
|
rs963534528 CA290549677 |
268 | N>H | No |
ClinGen Ensembl |
|
| TCGA novel | 269 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8545169 rs767080034 |
272 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA8545150 rs780880269 |
277 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA290549160 rs1025914896 |
281 | D>N | No |
ClinGen TOPMed |
|
|
CA8545149 rs147883949 |
283 | E>Q | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1597742539 CA399363851 |
286 | A>V | No |
ClinGen Ensembl |
|
|
CA290549099 rs766568737 |
300 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1344377578 CA399363657 |
306 | E>K | No |
ClinGen Ensembl |
|
|
rs1430611904 CA399363565 |
312 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA8545133 rs201577008 |
313 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1444576393 CA399363512 |
315 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1399640472 CA399363503 |
316 | S>G | No |
ClinGen gnomAD |
|
|
rs1332198887 CA399363495 |
316 | S>R | No |
ClinGen gnomAD |
|
|
rs1467624733 CA399363489 |
317 | S>G | No |
ClinGen gnomAD |
|
|
CA8545131 rs770612142 |
318 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA399363389 rs1200029275 |
323 | E>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 323 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1213463143 CA399363262 |
331 | E>K | No |
ClinGen TOPMed |
|
|
CA399363230 rs766656583 |
332 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766656583 CA8545122 |
332 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399363216 rs948161312 |
333 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA290548994 rs948161312 |
333 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs377136485 CA8545118 |
336 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8545116 rs765235194 |
337 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA399363127 rs1244331694 |
338 | I>M | No |
ClinGen TOPMed |
|
|
rs776552071 CA8545114 |
338 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA399363125 rs1025768618 |
339 | P>A | No |
ClinGen TOPMed |
|
|
CA399363120 rs1060501398 |
339 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA290548923 rs1025768618 |
339 | P>T | No |
ClinGen TOPMed |
|
| TCGA novel | 341 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399361881 rs1413261743 |
344 | E>K | No |
ClinGen gnomAD |
|
|
rs1413261743 CA399361879 |
344 | E>Q | No |
ClinGen gnomAD |
|
|
rs751700497 CA8545074 |
346 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs267604854 CA290547609 |
347 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA399361608 rs1458576011 |
356 | N>Y | No |
ClinGen gnomAD |
|
|
rs1247688181 CA399361490 |
363 | T>I | No |
ClinGen gnomAD |
|
|
rs1205865722 CA399361484 |
364 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA399361481 rs1205865722 |
364 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1270890372 CA399361457 RCV000523081 |
366 | D>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA8545062 rs768116351 |
367 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA399361342 rs1457405529 |
372 | E>K | No |
ClinGen gnomAD |
|
|
rs1350239548 CA399361313 |
373 | G>E | No |
ClinGen gnomAD |
|
|
CA399361303 rs1165295357 |
374 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 376 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 376 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399361235 rs1252831867 |
377 | M>T | No |
ClinGen gnomAD |
|
|
CA399361159 rs1314554797 |
382 | T>I | No |
ClinGen TOPMed |
|
|
CA399361154 rs1322064785 |
383 | S>R | No |
ClinGen TOPMed |
|
|
rs960134949 CA290547498 |
388 | G>D | No |
ClinGen Ensembl |
|
|
rs758595837 CA8545053 |
389 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1318195719 CA399361037 |
390 | E>G | No |
ClinGen gnomAD |
|
|
rs1298633600 CA399361023 |
391 | S>N | No |
ClinGen gnomAD |
|
|
rs982006343 CA290547452 |
392 | N>S | No |
ClinGen TOPMed |
|
|
rs1208733370 CA399360955 |
395 | T>A | No |
ClinGen TOPMed |
|
|
CA8545048 rs767236696 |
396 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 397 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1304692957 CA399360894 |
398 | E>D | No |
ClinGen gnomAD |
|
|
rs1397941319 CA399360874 |
399 | P>L | No |
ClinGen gnomAD |
|
|
CA399360784 rs1174090833 |
405 | P>L | No |
ClinGen gnomAD |
|
|
CA399360783 rs1433072533 |
406 | E>K | No |
ClinGen gnomAD |
|
|
rs1201969389 CA399360747 |
407 | D>E | No |
ClinGen gnomAD |
|
|
rs139178605 CA8545044 |
407 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 408 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
2 associated diseases with Q969G3
[MIM: 607174]: Meningioma (MNGMA)
A common neoplasm of the central nervous system derived from arachnoidal cells. The majority of meningiomas are well differentiated vascular tumors which grow slowly and have a low potential to be invasive, although malignant subtypes occur. Most cases are sporadic. Familial occurrence of meningioma is rare. {ECO:0000269|PubMed:23377182, ECO:0000269|PubMed:25249420}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
[MIM: 616938]: Coffin-Siris syndrome 5 (CSS5)
A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported. {ECO:0000269|PubMed:22426308, ECO:0000269|PubMed:23906836}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A common neoplasm of the central nervous system derived from arachnoidal cells. The majority of meningiomas are well differentiated vascular tumors which grow slowly and have a low potential to be invasive, although malignant subtypes occur. Most cases are sporadic. Familial occurrence of meningioma is rare. {ECO:0000269|PubMed:23377182, ECO:0000269|PubMed:25249420}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
- A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported. {ECO:0000269|PubMed:22426308, ECO:0000269|PubMed:23906836}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for Q969G3
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | High mobility group box domain | 65 - 135 | IPR009071 |
13 GO annotations of cellular component
| Name | Definition |
|---|---|
| bBAF complex | A brain-specific SWI/SNF-type complex that contains eight or nine proteins, including both conserved (core) and nonconserved components; contains the ATPase product of either the SMARCA4/BAF190A/BRG1 gene, the mammalian ortholog of the yeast SNF2 gene, or the SMARCA2/BAF190B/BRM gene, the mammalian ortholog of the Drosophila brm (brahma) gene, or an ortholog of either of these genes. Compared to the neuron-specific nBAF complex (GO:0071565) it does not contain DPF1, DPF3 or SMARCC1 or their orthologs. May contain PB1/BAF180. |
| brahma complex | A SWI/SNF-type complex that contains 8 to 14 proteins, including both conserved (core) and nonconserved components; contains the ATPase product of the Drosophila brm (brahma) or mammalian SMARCA2/BAF190B/BRM gene, or an ortholog thereof. |
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| kinetochore | A multisubunit complex that is located at the centromeric region of DNA and provides an attachment point for the spindle microtubules. |
| nBAF complex | A SWI/SNF-type complex that is found in post-mitotic neurons, and in human contains actin and proteins encoded by the ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, DPF1/BAF45B, DPF3/BAF45C, ACTL6B/BAF53B genes. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth. |
| npBAF complex | A SWI/SNF-type complex that is found in neural stem or progenitor cells, and in human contains actin and proteins encoded by the ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, PHF10/BAF45A, ACTL6A/BAF53A genes. The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. |
| nuclear chromosome | A chromosome that encodes the nuclear genome and is found in the nucleus of a eukaryotic cell during the cell cycle phases when the nucleus is intact. |
| nuclear matrix | The dense fibrillar network lying on the inner side of the nuclear membrane. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
| RSC-type complex | A SWI/SNF-type complex that contains a bromodomain containing-protein, such as yeast Rsc1 or Rsc4 or mammalian PB1/BAF180. The RSC complex is generally recruited to RNA polymerase III promoters and is specifically recruited to RNA polymerase II promoters by transcriptional activators and repressors; it is also involved in non-homologous end joining. |
| SWI/SNF complex | A SWI/SNF-type complex that contains 8 to 14 proteins, including both conserved (core) and nonconserved components; contains the ATPase product of the yeast SNF2 or mammalian SMARCA4/BAF190A/BRG1 gene, or an ortholog thereof. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| chromatin binding | Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| N-acetyltransferase activity | Catalysis of the transfer of an acetyl group to a nitrogen atom on the acceptor molecule. |
| nuclear receptor binding | Binding to a nuclear receptor protein. Nuclear receptor proteins are DNA-binding transcription factors which are regulated by binding to a ligand. |
| protein N-terminus binding | Binding to a protein N-terminus, the end of any peptide chain at which the 2-amino (or 2-imino) function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| transcription coactivator activity | A transcription coregulator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coactivators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator. |
14 GO annotations of biological process
| Name | Definition |
|---|---|
| chromatin remodeling | A dynamic process of chromatin reorganization resulting in changes to chromatin structure. These changes allow DNA metabolic processes such as transcriptional regulation, DNA recombination, DNA repair, and DNA replication. |
| negative regulation of DNA-templated transcription | Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription. |
| neurogenesis | Generation of cells within the nervous system. |
| nucleosome disassembly | The controlled breakdown of nucleosomes, the beadlike structural units of eukaryotic chromatin composed of histones and DNA. |
| positive regulation of cell differentiation | Any process that activates or increases the frequency, rate or extent of cell differentiation. |
| positive regulation of double-strand break repair | Any process that activates or increases the frequency, rate or extent of double-strand break repair. |
| positive regulation of myoblast differentiation | Any process that activates or increases the frequency, rate or extent of myoblast differentiation. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers. |
| positive regulation of stem cell population maintenance | Any process that activates or increases the frequency, rate or extent of stem cell population maintenance. |
| positive regulation of T cell differentiation | Any process that activates or increases the frequency, rate or extent of T cell differentiation. |
| regulation of G0 to G1 transition | A cell cycle process that modulates the rate or extent of the transition from the G0 quiescent state to the G1 phase. |
| regulation of G1/S transition of mitotic cell cycle | Any signalling pathway that modulates the activity of a cell cycle cyclin-dependent protein kinase to modulate the switch from G1 phase to S phase of the mitotic cell cycle. |
| regulation of mitotic metaphase/anaphase transition | Any process that modulates the frequency, rate or extent of the cell cycle process in which a cell progresses from metaphase to anaphase during mitosis, triggered by the activation of the anaphase promoting complex by Cdc20/Sleepy homolog which results in the degradation of Securin. |
| regulation of nucleotide-excision repair | Any process that modulates the frequency, rate or extent of nucleotide-excision repair. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
2 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O54941 | Smarce1 | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1 | Mus musculus (Mouse) | PR |
| Q56A18 | Smarce1 | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSKRPSYAPP | PTPAPATQMP | STPGFVGYNP | YSHLAYNNYR | LGGNPGTNSR | VTASSGITIP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KPPKPPDKPL | MPYMRYSRKV | WDQVKASNPD | LKLWEIGKII | GGMWRDLTDE | EKQEYLNEYE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| AEKIEYNESM | KAYHNSPAYL | AYINAKSRAE | AALEEESRQR | QSRMEKGEPY | MSIQPAEDPD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DYDDGFSMKH | TATARFQRNH | RLISEILSES | VVPDVRSVVT | TARMQVLKRQ | VQSLMVHQRK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LEAELLQIEE | RHQEKKRKFL | ESTDSFNNEL | KRLCGLKVEV | DMEKIAAEIA | QAEEQARKRQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EEREKEAAEQ | AERSQSSIVP | EEEQAANKGE | EKKDDENIPM | ETEETHLEET | TESQQNGEEG |
| 370 | 380 | 390 | 400 | 410 | |
| TSTPEDKESG | QEGVDSMAEE | GTSDSNTGSE | SNSATVEEPP | TDPIPEDEKK | E |