Q9H8M5
PR
Gene name |
CNNM2 (ACDP2) |
Protein name |
Metal transporter CNNM2 |
Names |
Ancient conserved domain-containing protein 2, Cyclin-M2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:54805 |
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
Autoinhibited structure
Activated structure
8 structures for Q9H8M5
493 variants for Q9H8M5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000293358 rs886046669 CA10627963 |
17 | Q>E | Renal hypomagnesemia 6 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs76057237 VAR_065259 RCV001636857 CA5670227 RCV000329813 |
38 | R>Q | Renal hypomagnesemia 6 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000023660 rs1564803221 |
40 | I>missing | Renal hypomagnesemia 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1845510486 RCV001290324 |
48 | L>P | Hypomagnesemia, seizures, and intellectual disability 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1845519788 RCV001104276 |
99 | T>S | Renal hypomagnesemia 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_073848 rs786205909 CA200198 RCV000172913 |
122 | E>K | Hypomagnesemia, seizures, and intellectual disability 1 HOMGSMR1; results in reduced protein membrane expression [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA5670294 RCV000887997 RCV000381596 RCV002502185 rs75800852 |
202 | A>T | Renal hypomagnesemia 6 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA200202 VAR_073849 RCV000172915 rs794726858 |
269 | S>W | Variant assessed as Somatic; impact. Hypomagnesemia, seizures, and intellectual disability 1 HOMGSMR1; results in reduced protein membrane expression; decreases cellular uptake of magnesium [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
rs1845544924 RCV001290325 |
314 | Y>* | Hypomagnesemia, seizures, and intellectual disability 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1845545201 RCV001290326 |
321 | L>missing | Hypomagnesemia, seizures, and intellectual disability 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1845545378 RCV001290327 |
324 | V>M | Hypomagnesemia, seizures, and intellectual disability 1 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_073850 | 330 | L>F | HOMGSMR1 [UniProt] | Yes | UniProt |
|
RCV001290333 rs1845546472 |
339 | G>D | Hypomagnesemia, seizures, and intellectual disability 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_073851 rs786205910 CA200200 RCV000172914 |
357 | E>K | Hypomagnesemia, seizures, and intellectual disability 1 HOMGSMR1; results in decreased cellular uptake of magnesium [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001290334 rs1845549123 |
365 | S>F | Hypomagnesemia, seizures, and intellectual disability 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1845553116 RCV001290328 |
418 | L>P | Hypomagnesemia, seizures, and intellectual disability 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs387906975 VAR_065260 RCV000023661 CA129396 |
568 | T>I | Renal hypomagnesemia 6 HOMG6; reduced activity; electrophysiological analysis shows that magnesium-sensitive sodium currents are significantly diminished and are blocked by increased extracellular magnesium concentrations [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001290330 rs2065263811 |
614 | S>R | Hypomagnesemia, seizures, and intellectual disability 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001270788 rs2065304496 |
667 | K>R | CNNM2-related neurodevelopmental disorder and hypomagnesemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000298654 RCV002487324 CA10634472 rs375262395 |
671 | A>V | Renal hypomagnesemia 6 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
CA5670534 rs748696153 RCV001196958 |
709 | A>S | Renal hypomagnesemia 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000263783 CA10634479 rs886046671 |
730 | T>A | Renal hypomagnesemia 6 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002549712 RCV000988449 rs988049940 CA212308389 |
747 | N>S | Inborn genetic diseases Hypomagnesemia, seizures, and intellectual disability 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000444760 RCV002481346 RCV002525507 rs1057524606 CA16606617 |
773 | P>L | Renal hypomagnesemia 6 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002483936 rs201067221 CA5670602 RCV001172041 |
779 | N>S | Renal hypomagnesemia 6 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1564873187 RCV001290331 CA377964252 |
795 | S>L | Hypomagnesemia, seizures, and intellectual disability 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
TCGA novel rs2065688398 RCV001290332 |
797 | R>* | Variant assessed as Somatic; impact. Hypomagnesemia, seizures, and intellectual disability 1 [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
rs2065703394 RCV002555017 RCV001104066 |
810 | Q>H | Renal hypomagnesemia 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5670205 rs762143326 |
4 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs952539814 CA212303452 |
5 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA212303462 rs1046618439 |
6 | A>V | No |
ClinGen Ensembl |
|
|
CA377953608 rs1395382591 |
7 | C>F | No |
ClinGen gnomAD |
|
|
CA5670206 rs772268353 |
8 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1342309541 CA377953640 |
9 | P>T | No |
ClinGen gnomAD |
|
|
rs1453412684 CA377953677 |
11 | V>I | No |
ClinGen gnomAD |
|
|
CA377953689 rs1213003265 |
12 | K>T | No |
ClinGen TOPMed |
|
|
CA377953707 rs1340232323 |
14 | A>E | No |
ClinGen gnomAD |
|
|
CA5670207 rs370580602 |
16 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1351394044 CA377953716 |
16 | G>R | No |
ClinGen TOPMed |
|
|
rs1252245575 CA377953733 |
18 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1252245575 CA377953731 |
18 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA377953734 rs1344820808 |
19 | A>T | No |
ClinGen gnomAD |
|
|
CA212303467 rs982593071 |
19 | A>V | No |
ClinGen TOPMed |
|
|
CA377953740 rs1258927984 |
20 | A>P | No |
ClinGen gnomAD |
|
|
rs1226972329 CA377953744 |
20 | A>V | No |
ClinGen TOPMed |
|
|
rs766846061 CA5670209 |
21 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA377953753 rs1246899105 |
22 | L>P | No |
ClinGen gnomAD |
|
|
rs759852477 CA5670211 |
24 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377953765 rs759852477 |
24 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1465392632 CA377953773 |
25 | W>C | No |
ClinGen gnomAD |
|
|
rs976118420 CA212303504 |
25 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5670212 rs765588042 |
26 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 27 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377953785 rs1450573365 |
27 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5670213 rs751154656 |
29 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs756960666 CA5670214 |
29 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA5670215 rs540558653 |
30 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA377953802 rs1384119311 |
30 | R>H | No |
ClinGen gnomAD |
|
|
CA377953807 rs1162338591 |
31 | R>C | No |
ClinGen TOPMed |
|
|
rs1330855833 CA377953810 |
31 | R>L | No |
ClinGen gnomAD |
|
|
CA5670218 rs779803547 |
32 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749255923 CA5670219 |
32 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749255923 CA212303528 |
32 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377953811 rs779803547 |
32 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1487288127 CA377953814 |
32 | S>R | No |
ClinGen TOPMed |
|
|
CA5670220 rs749255923 |
32 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778913690 CA5670221 |
33 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377953816 rs778913690 |
33 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5670222 rs748377838 |
34 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377953821 rs748377838 |
34 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377953822 rs1463207578 |
34 | S>N | No |
ClinGen gnomAD |
|
|
CA377953828 rs1206492356 |
35 | A>P | No |
ClinGen gnomAD |
|
|
rs1261945146 CA377953832 |
35 | A>V | No |
ClinGen gnomAD |
|
|
rs532564685 CA5670223 |
36 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA377953839 rs773321447 |
37 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs773321447 CA5670224 |
37 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs76057237 CA377953845 |
38 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1480720023 CA377953844 |
38 | R>W | No |
ClinGen gnomAD |
|
|
CA377953849 rs775896596 |
39 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA5670229 rs765571636 |
39 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5670230 rs775896596 |
39 | G>V | No |
ClinGen ExAC gnomAD |
|
| rs1564803221 | 40 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377953860 rs1385324374 |
41 | L>Q | No |
ClinGen gnomAD |
|
|
CA5670232 rs767121961 |
42 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750109701 CA5670233 |
44 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs765928831 CA5670235 |
45 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5670234 rs755515176 |
45 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs765928831 CA377953884 |
45 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001008226 rs1590243044 |
46 | G>missing | No |
ClinVar dbSNP |
|
|
rs1260811735 CA377953888 |
46 | G>E | No |
ClinGen gnomAD |
|
|
rs1457126679 CA377953885 |
46 | G>R | No |
ClinGen TOPMed |
|
|
CA377953894 rs1487914550 |
47 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA377953895 rs1487914550 |
47 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs755036772 CA5670237 |
49 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1490465709 CA377953907 |
50 | P>S | No |
ClinGen gnomAD |
|
|
CA377953918 rs1301849199 |
52 | L>F | No |
ClinGen Ensembl |
|
|
CA377953961 rs1264007093 |
58 | C>F | No |
ClinGen TOPMed |
|
|
CA377953959 rs1264007093 |
58 | C>Y | No |
ClinGen TOPMed |
|
|
rs778819983 CA5670238 |
61 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1456582286 CA377953986 |
62 | G>D | No |
ClinGen gnomAD |
|
|
CA377953981 rs1367972255 |
62 | G>S | No |
ClinGen gnomAD |
|
|
CA377953987 rs1468221509 |
63 | C>R | No |
ClinGen TOPMed |
|
|
rs1305251556 CA377954000 |
64 | A>V | No |
ClinGen gnomAD |
|
|
CA377954005 rs1273981014 |
65 | A>V | No |
ClinGen TOPMed |
|
|
CA377954012 rs1316511128 |
66 | V>G | No |
ClinGen TOPMed |
|
|
CA377954013 rs1251091949 |
67 | G>S | No |
ClinGen TOPMed |
|
|
CA5670240 rs758292054 |
68 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001090927 rs1845515645 |
69 | N>S | No |
ClinVar dbSNP |
|
| TCGA novel | 73 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377954131 rs1590243282 |
76 | G>V | No |
ClinGen Ensembl |
|
|
rs975427269 CA212303652 |
84 | D>Y | No |
ClinGen Ensembl |
|
|
CA377954325 rs1204119955 |
85 | V>A | No |
ClinGen gnomAD |
|
|
rs1359753567 CA377954319 |
85 | V>L | No |
ClinGen gnomAD |
|
|
rs1284176506 CA377954428 |
89 | E>D | No |
ClinGen Ensembl |
|
|
rs1255547954 CA377954449 |
90 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 90 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1165677502 CA377954467 |
91 | G>E | No |
ClinGen gnomAD |
|
| rs768722573 | 92 | A>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs768722573 | 92 | A>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5670246 rs746369588 |
92 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1167027208 CA377954487 |
92 | A>V | No |
ClinGen gnomAD |
|
|
rs1377770332 CA377954656 |
100 | R>Q | No |
ClinGen gnomAD |
|
|
CA377954674 rs1375811374 |
101 | V>L | No |
ClinGen TOPMed |
|
|
rs140629190 CA5670250 |
102 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 104 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs976703670 CA212303735 |
104 | R>Q | No |
ClinGen TOPMed |
|
|
rs1253699216 CA377954715 |
105 | V>L | No |
ClinGen TOPMed |
|
|
rs765806333 CA5670253 |
115 | W>L | No |
ClinGen ExAC |
|
| TCGA novel | 115 | W>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA212303744 rs868073270 |
117 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1459952733 CA377955002 |
118 | I>M | No |
ClinGen gnomAD |
|
|
CA377955005 rs1185427984 |
119 | A>T | No |
ClinGen gnomAD |
|
|
CA377955019 rs1243826389 |
119 | A>V | No |
ClinGen gnomAD |
|
|
rs752713914 CA5670257 |
124 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs77210823 CA212303779 |
124 | E>G | No |
ClinGen Ensembl |
|
|
rs1357883766 CA377955142 |
124 | E>K | No |
ClinGen gnomAD |
|
|
rs1433891785 CA377955175 |
127 | R>C | No |
ClinGen gnomAD |
|
|
rs777634946 CA5670260 |
127 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377955212 rs1564803630 |
129 | S>T | No |
ClinGen Ensembl |
|
|
CA377955290 rs1444186014 |
133 | R>C | No |
ClinGen TOPMed |
|
|
rs757565236 CA5670262 |
133 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1263814026 CA377955314 |
134 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 137 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA212303803 rs1002454762 |
137 | G>D | No |
ClinGen gnomAD |
|
|
RCV000904063 CA5670265 rs199849767 |
138 | P>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA377955415 rs1370325920 |
139 | A>T | No |
ClinGen gnomAD |
|
|
rs768892390 CA5670268 |
140 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA377955554 rs1021336523 |
143 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA212303868 rs1021336523 |
143 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs914692478 CA212303867 |
143 | P>S | No |
ClinGen TOPMed |
|
|
CA5670271 rs770667031 |
144 | D>N | No |
ClinGen ExAC TOPMed |
|
|
CA377955567 rs770667031 |
144 | D>Y | No |
ClinGen ExAC TOPMed |
|
|
rs371028392 CA5670272 |
145 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1433621842 CA377955618 |
146 | G>D | No |
ClinGen gnomAD |
|
|
CA377955639 rs764846747 |
147 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764846747 CA5670274 |
147 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763004590 CA5670276 |
149 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA5670277 rs763792047 |
151 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA377955746 rs1222095936 |
152 | I>T | No |
ClinGen gnomAD |
|
|
CA5670278 rs374674585 |
153 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781338952 CA5670280 |
157 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1267198084 CA377955892 |
158 | I>M | No |
ClinGen gnomAD |
|
|
rs368608994 CA5670282 |
160 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1019863411 CA212303925 |
166 | N>S | No |
ClinGen Ensembl |
|
|
CA5670286 rs751388610 |
169 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA212303958 rs975290107 |
173 | I>V | No |
ClinGen gnomAD |
|
|
rs1363448030 CA377956135 |
176 | E>D | No |
ClinGen gnomAD |
|
|
rs748497096 CA5670287 |
177 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA377956255 rs1439938979 |
182 | K>R | No |
ClinGen gnomAD |
|
|
rs1590244008 CA377956282 |
183 | M>T | No |
ClinGen Ensembl |
|
|
rs772355243 CA5670288 |
185 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1415361448 CA377956415 |
188 | S>Y | No |
ClinGen TOPMed |
|
|
CA377956485 rs1289920912 |
191 | L>P | No |
ClinGen gnomAD |
|
|
CA377956533 rs1590244060 |
193 | T>K | No |
ClinGen Ensembl |
|
|
rs1251568723 CA377956614 |
197 | T>M | No |
ClinGen gnomAD |
|
|
rs984170802 CA212303967 |
199 | A>T | No |
ClinGen TOPMed |
|
|
CA377956669 rs1234090580 |
200 | L>P | No |
ClinGen gnomAD |
|
|
rs1162409609 CA377956751 |
204 | G>D | No |
ClinGen gnomAD |
|
|
CA5670295 rs143215831 RCV000994497 |
205 | S>L | No |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
|
CA5670296 rs761626911 |
206 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1426177819 CA377956813 |
206 | G>R | No |
ClinGen gnomAD |
|
|
CA377956838 rs1395591496 |
207 | S>Y | No |
ClinGen gnomAD |
|
|
CA377956873 rs1260155959 |
208 | T>A | No |
ClinGen TOPMed |
|
|
rs1554887600 CA5670298 |
208 | T>M | No |
ClinGen Ensembl |
|
|
rs750633463 CA5670300 |
209 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377956891 rs1330874988 |
209 | G>S | No |
ClinGen gnomAD |
|
|
CA5670301 rs756398984 |
213 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1313043976 CA377957014 |
214 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 215 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1247071165 CA377957045 |
216 | G>S | No |
ClinGen gnomAD |
|
|
CA377957068 rs1274346805 |
217 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA377957066 rs1274346805 |
217 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1198038296 CA377957075 |
218 | S>P | No |
ClinGen gnomAD |
|
|
CA377957090 rs1353778666 |
219 | G>E | No |
ClinGen TOPMed |
|
|
CA377957088 rs1274273622 |
219 | G>W | No |
ClinGen gnomAD |
|
|
CA377957111 rs1460061820 |
220 | V>G | No |
ClinGen Ensembl |
|
|
CA212304032 rs948440148 |
226 | P>S | No |
ClinGen TOPMed |
|
|
CA212304056 rs1055355778 |
228 | W>C | No |
ClinGen Ensembl |
|
|
rs1460312715 CA377957235 |
228 | W>S | No |
ClinGen gnomAD |
|
|
CA377957247 rs1429938922 |
229 | A>T | No |
ClinGen TOPMed |
|
|
CA5670310 rs769609105 |
230 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1397067318 CA377957310 |
232 | T>I | No |
ClinGen gnomAD |
|
|
CA5670311 rs774840445 |
234 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA377957456 rs1402702416 |
242 | K>R | No |
ClinGen TOPMed |
|
|
CA377957494 rs1453621410 |
244 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA377957669 rs1420464428 |
254 | P>A | No |
ClinGen TOPMed |
|
| TCGA novel | 256 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1590244524 CA377957753 |
259 | V>G | No |
ClinGen Ensembl |
|
|
rs1426395031 CA377957879 |
267 | C>Y | No |
ClinGen gnomAD |
|
|
rs1590244608 CA377957993 |
276 | N>H | No |
ClinGen Ensembl |
|
|
CA377958023 rs1384137975 |
280 | M>I | No |
ClinGen gnomAD |
|
| TCGA novel | 281 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1028264830 CA212304149 |
284 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1590244667 CA377958069 |
286 | E>A | No |
ClinGen Ensembl |
|
|
CA377958111 rs1285798209 |
288 | R>L | No |
ClinGen gnomAD |
|
|
CA5670324 rs753232101 |
289 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs753232101 CA377958119 |
289 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1259646983 CA377958155 |
290 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 291 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1255907595 CA377958306 |
295 | T>M | No |
ClinGen TOPMed |
|
|
rs757715211 CA5670328 |
297 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 298 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140279763 CA377958484 |
301 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755736364 CA212304213 |
301 | Y>C | No |
ClinGen Ensembl |
|
|
rs1158393083 CA377958491 |
302 | A>T | No |
ClinGen gnomAD |
|
|
CA5670332 rs778356655 |
303 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1455529028 CA377958549 |
304 | R>C | No |
ClinGen gnomAD |
|
|
rs773159869 CA5670335 |
306 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5670339 rs759736939 |
310 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 332 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1409923908 CA377959273 |
337 | I>V | No |
ClinGen TOPMed |
|
|
rs781421169 CA5670347 |
341 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA377959309 rs1420782417 |
343 | V>L | No |
ClinGen TOPMed |
|
|
CA377959325 rs1590244963 |
345 | V>G | No |
ClinGen Ensembl |
|
|
CA16618924 rs1064794775 RCV000483620 |
346 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1064794775 CA377959330 |
346 | V>G | No |
ClinGen Ensembl |
|
|
CA377959343 rs1590244976 |
349 | T>P | No |
ClinGen Ensembl |
|
|
RCV001261741 rs1845547583 |
351 | G>R | No |
ClinVar dbSNP |
|
|
CA377959364 rs1564804555 |
352 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 353 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1366640190 CA377959395 |
356 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA212304393 rs200357709 |
358 | I>T | No |
ClinGen 1000Genomes |
|
|
RCV001264669 rs1845549561 |
371 | V>L | No |
ClinVar dbSNP |
|
|
rs1590245103 CA377959504 |
374 | N>H | No |
ClinGen Ensembl |
|
|
rs776354995 CA5670356 |
377 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA377959533 rs1564804663 |
378 | L>V | No |
ClinGen Ensembl |
|
| TCGA novel | 380 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001312193 rs1845550578 |
383 | M>V | No |
ClinVar dbSNP |
|
|
CA5670358 rs769958762 |
387 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 388 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1453335266 CA377959617 |
389 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA377959629 rs1185727928 |
391 | Y>D | No |
ClinGen gnomAD |
|
|
CA5670360 rs763082866 |
399 | C>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 400 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1356721970 CA377959727 |
401 | L>P | No |
ClinGen gnomAD |
|
|
rs1064794580 RCV000481179 CA16618925 |
402 | G>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1404807841 CA377959764 |
403 | Q>R | No |
ClinGen gnomAD |
|
|
rs764270473 CA377959831 |
407 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA5670361 rs764270473 |
407 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1441967558 CA377959868 |
408 | V>I | No |
ClinGen TOPMed |
|
|
CA377960061 rs1293179542 |
417 | M>I | No |
ClinGen gnomAD |
|
|
CA377960164 rs1199252566 |
421 | T>P | No |
ClinGen gnomAD |
|
| TCGA novel | 428 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1355626818 CA377960570 |
435 | I>M | No |
ClinGen TOPMed |
|
| TCGA novel | 442 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764757429 CA5670367 |
443 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA377960715 rs1247901125 |
444 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 449 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1467729569 CA377960909 |
454 | R>L | No |
ClinGen gnomAD |
|
|
CA377960916 rs1455331248 |
455 | D>Y | No |
ClinGen TOPMed |
|
|
CA377960956 rs1359308930 |
458 | M>V | No |
ClinGen gnomAD |
|
|
rs746947940 CA5670371 |
461 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1219127810 CA377961023 |
463 | A>S | No |
ClinGen gnomAD |
|
|
CA212304595 rs865847626 |
463 | A>V | No |
ClinGen Ensembl |
|
|
CA377961085 rs1321369147 |
468 | N>S | No |
ClinGen gnomAD |
|
|
rs991079302 CA212304599 |
469 | T>N | No |
ClinGen Ensembl |
|
|
rs1176424277 CA377961108 |
470 | M>L | No |
ClinGen TOPMed |
|
|
CA377961205 rs1480873771 |
476 | S>G | No |
ClinGen TOPMed |
|
|
rs745597919 CA5670374 |
478 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA212304618 rs915531187 |
479 | T>A | No |
ClinGen Ensembl |
|
|
CA377961261 rs1214000904 |
479 | T>N | No |
ClinGen gnomAD |
|
|
CA212304625 rs866823473 |
480 | R>H | No |
ClinGen Ensembl |
|
|
CA377961286 rs1590245539 |
481 | I>L | No |
ClinGen Ensembl |
|
|
CA212304645 rs75961613 |
482 | P>T | No |
ClinGen Ensembl |
|
|
CA5670375 rs769658377 |
483 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1234379418 CA377961389 |
486 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 486 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1590245569 CA377961398 |
487 | E>G | No |
ClinGen Ensembl |
|
|
CA5670376 rs775787922 |
489 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5670377 rs377103063 |
490 | N>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5670379 rs774636915 |
494 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 499 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5670382 rs773801491 |
507 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA377961634 rs1400344160 |
508 | C>R | No |
ClinGen gnomAD |
|
|
CA5670384 rs766784112 |
510 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1041170083 CA212304719 |
513 | T>I | No |
ClinGen Ensembl |
|
|
rs758115800 CA5670386 |
514 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA377961770 rs1350098725 |
515 | T>P | No |
ClinGen gnomAD |
|
|
CA5670387 rs763560961 |
521 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA5670388 rs751115904 |
527 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs751115904 CA377962054 |
527 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1290058895 CA377962086 |
529 | T>A | No |
ClinGen gnomAD |
|
|
rs1343079665 CA377962120 |
530 | K>N | No |
ClinGen TOPMed |
|
|
rs1490979298 CA377962145 |
532 | D>N | No |
ClinGen gnomAD |
|
|
CA377962179 rs1564805166 |
533 | A>G | No |
ClinGen Ensembl |
|
|
rs146507239 CA5670389 |
533 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780947911 CA5670390 |
534 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 537 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377956177 rs1480079135 |
547 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1043614377 CA212328467 |
548 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs373729846 CA5670433 |
550 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5670434 rs377640967 |
553 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1402194113 CA377956478 |
567 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1402194113 COSM1201563 CA377956476 |
567 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
| TCGA novel | 569 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 575 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1064795292 CA16618926 RCV000483858 |
578 | K>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA377956718 rs1332357521 |
582 | L>R | No |
ClinGen gnomAD |
|
|
CA5670442 rs747058788 |
588 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs893388419 CA212328502 |
588 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
CA5670440 rs777695456 |
588 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA5670468 rs746369482 |
589 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1350904884 CA377958148 |
592 | R>G | No |
ClinGen gnomAD |
|
|
CA5670469 rs756652510 |
592 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs867956618 CA212331428 |
593 | T>M | No |
ClinGen gnomAD |
|
|
CA377958185 rs1448510355 |
594 | K>E | No |
ClinGen gnomAD |
|
|
rs1019965850 CA212331434 |
599 | H>Q | No |
ClinGen gnomAD |
|
|
rs749627094 CA5670471 |
600 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA212331445 rs762382971 |
602 | R>P | No |
ClinGen gnomAD |
|
|
CA212331442 rs762382971 |
602 | R>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 605 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377958424 rs1314631091 |
608 | A>V | No |
ClinGen gnomAD |
|
|
rs1226683009 CA377958503 |
612 | T>I | No |
ClinGen gnomAD |
|
|
rs746718154 CA5670474 |
619 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1460152846 CA377958715 |
621 | S>P | No |
ClinGen gnomAD |
|
|
rs1183901729 CA377958801 |
624 | L>H | No |
ClinGen gnomAD |
|
|
CA377958881 rs1201563234 |
627 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1397932904 CA377958905 |
628 | M>I | No |
ClinGen TOPMed |
|
|
CA377958888 rs1258643227 |
628 | M>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 629 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 630 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377958979 rs1428411726 |
631 | F>C | No |
ClinGen gnomAD |
|
| TCGA novel | 633 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1208237649 CA377959699 |
635 | E>D | No |
ClinGen TOPMed |
|
|
CA212332769 rs914829027 |
638 | A>E | No |
ClinGen TOPMed |
|
|
rs371670698 CA5670495 |
641 | P>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA377959850 rs1316660569 |
643 | Q>R | No |
ClinGen TOPMed |
|
|
rs762852231 CA5670498 |
656 | P>S | No |
ClinGen ExAC |
|
|
CA5670499 rs768493356 |
657 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377960176 rs1342229522 |
659 | I>M | No |
ClinGen gnomAD |
|
|
rs774171664 CA5670500 |
661 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 669 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377960440 rs760753155 |
671 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs760753155 CA5670505 |
671 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 673 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5670507 rs754366356 |
673 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1590474609 CA377960498 |
674 | Y>S | No |
ClinGen Ensembl |
|
|
CA5670508 rs755481906 |
675 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA377960539 rs1590474628 |
677 | Y>S | No |
ClinGen Ensembl |
|
|
rs200419339 CA5670509 |
679 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs753065287 CA5670510 |
679 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5670511 rs753065287 |
679 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745518321 CA377960605 CA5670513 |
680 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA5670512 rs780922912 |
680 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 681 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 683 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779494027 CA5670515 |
687 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 690 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750081285 CA5670531 |
697 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 698 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377959939 rs1412838329 |
702 | G>D | No |
ClinGen TOPMed |
|
|
CA212301294 rs755571314 |
707 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs748696153 CA377960088 |
709 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377960159 rs1242718548 |
712 | Y>H | No |
ClinGen TOPMed |
|
|
CA377960166 rs1204965239 |
712 | Y>S | No |
ClinGen gnomAD |
|
|
CA5670535 rs768183987 |
715 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1229458417 CA377961263 |
717 | A>V | No |
ClinGen gnomAD |
|
|
rs185975284 CA212301339 |
719 | T>P | No |
ClinGen Ensembl |
|
|
rs1247239313 CA377961331 |
721 | S>A | No |
ClinGen TOPMed |
|
|
CA377961337 rs1362006143 |
721 | S>C | No |
ClinGen TOPMed |
|
|
RCV000723034 rs1564871031 |
724 | P>missing | No |
ClinVar dbSNP |
|
|
CA377962403 rs1199489653 |
724 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs777792229 CA377962429 |
725 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA377962450 rs1415338887 |
727 | L>V | No |
ClinGen gnomAD |
|
|
rs746746121 CA5670558 |
729 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5670559 rs770767352 |
729 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA212304397 rs749246169 |
732 | V>A | No |
ClinGen Ensembl |
|
|
CA212304391 rs1039488939 |
732 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA377962557 rs1195433007 |
734 | S>T | No |
ClinGen TOPMed |
|
|
CA377962589 rs1447412520 |
736 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 737 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1340652211 CA595233624 |
741 | A>E | No |
ClinGen gnomAD |
|
| TCGA novel | 743 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs189550661 CA5670565 |
744 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA377963370 rs1205872370 |
749 | S>T | No |
ClinGen TOPMed |
|
| TCGA novel | 750 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5670580 rs781103939 |
752 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs781103939 CA5670579 |
752 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs770187293 CA5670581 |
752 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377963408 rs1239783831 |
753 | P>S | No |
ClinGen TOPMed |
|
|
CA377963424 rs1554906985 RCV000521549 |
754 | C>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs904188316 CA377963420 |
754 | C>G | No |
ClinGen TOPMed |
|
|
rs904188316 CA212308410 |
754 | C>R | No |
ClinGen TOPMed |
|
|
rs569895701 CA5670583 |
755 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5670584 rs1554906986 |
756 | L>F | No |
ClinGen Ensembl |
|
|
CA377963987 rs1368341156 |
757 | N>S | No |
ClinGen gnomAD |
|
|
rs1456892100 CA377963999 |
758 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA377964015 rs1392302728 |
761 | S>A | No |
ClinGen gnomAD |
|
|
CA377964019 rs1441151847 |
761 | S>C | No |
ClinGen gnomAD |
|
|
CA377964016 rs1392302728 |
761 | S>P | No |
ClinGen gnomAD |
|
|
rs774662610 CA5670587 |
762 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1241978154 CA377964026 |
763 | S>G | No |
ClinGen gnomAD |
|
|
CA377964035 rs1307518396 |
764 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA377964044 rs773618129 |
765 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377749684 CA5670591 |
766 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752353534 CA5670594 |
767 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5670593 rs752353534 |
767 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770585350 CA5670592 |
767 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs371048265 CA5670595 |
769 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5670597 rs757254202 |
770 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1179633578 CA377964073 |
770 | A>V | No |
ClinGen gnomAD |
|
|
rs750190975 CA5670599 |
771 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377964084 rs1167587533 |
772 | T>I | No |
ClinGen gnomAD |
|
|
rs930951640 CA212308563 |
775 | L>P | No |
ClinGen Ensembl |
|
|
CA212308569 rs556021948 |
778 | S>G | No |
ClinGen gnomAD |
|
|
CA5670601 rs780356793 |
778 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1298504477 CA377964118 |
778 | S>R | No |
ClinGen gnomAD |
|
|
rs1394098713 CA377964131 |
780 | N>S | No |
ClinGen gnomAD |
|
|
rs1394098713 COSM914294 CA377964130 |
780 | N>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA5670603 rs768614678 |
781 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554907016 CA377964143 |
782 | L>V | No |
ClinGen Ensembl |
|
|
rs1356019307 CA377964152 |
783 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1218026306 CA377964161 |
784 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1218026306 CA377964159 |
784 | S>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1256298908 CA377964166 |
785 | S>L | No |
ClinGen gnomAD |
|
|
rs1205534802 CA377964171 |
786 | L>H | No |
ClinGen gnomAD |
|
|
CA377964203 rs772583923 |
791 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA5670606 rs772583923 |
791 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1477815087 CA377964270 |
797 | R>Q | No |
ClinGen gnomAD |
|
|
rs868705643 CA212308651 |
800 | S>* | No |
ClinGen Ensembl |
|
|
rs1365754158 CA377964541 |
813 | Q>L | No |
ClinGen gnomAD |
|
|
CA212309377 rs748865976 |
816 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 816 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377964654 rs1207958218 |
819 | S>F | No |
ClinGen gnomAD |
|
|
CA5670631 rs761318651 |
820 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5670630 rs773903488 |
820 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377964709 rs1564873556 |
823 | K>T | No |
ClinGen Ensembl |
|
|
rs375970630 CA5670635 |
824 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773267460 CA5670634 |
824 | T>P | No |
ClinGen ExAC |
|
|
rs375970630 CA377964729 |
824 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773267460 CA377964724 |
824 | T>S | No |
ClinGen ExAC |
|
|
rs766254428 CA5670636 |
826 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1487281040 CA377964744 |
826 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA377964754 rs1481995466 |
827 | S>F | No |
ClinGen TOPMed |
|
|
CA212309431 CA377964767 rs900591177 |
829 | D>E | No |
ClinGen gnomAD |
|
|
rs754761506 CA5670638 |
830 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs368861623 CA5670639 |
832 | N>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA212309453 rs368861623 |
832 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA377964803 rs1204942094 |
833 | T>A | No |
ClinGen TOPMed |
|
|
CA377964839 rs1164136549 |
836 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1438731355 CA377964863 |
837 | L>F | No |
ClinGen gnomAD |
|
|
CA212309521 rs374070149 |
838 | T>I | No |
ClinGen ESP TOPMed |
|
|
rs374070149 CA212309518 |
838 | T>N | No |
ClinGen ESP TOPMed |
|
|
CA5670641 rs374242727 |
840 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1311997511 CA377964893 |
841 | E>Q | No |
ClinGen gnomAD |
|
|
CA377964913 rs1228290887 |
843 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA212309546 rs926981784 |
843 | H>Q | No |
ClinGen TOPMed |
|
|
rs1462792067 CA377964922 |
844 | D>N | No |
ClinGen TOPMed |
|
|
rs941241648 CA212309550 |
845 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1253168085 CA377965008 |
849 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5670646 rs746201341 |
852 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA5670649 rs754935179 |
856 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA212309591 rs959125956 |
857 | Q>* | No |
ClinGen Ensembl |
|
|
CA377965255 rs1200954351 |
859 | C>S | No |
ClinGen TOPMed |
|
|
CA212309614 rs990503319 |
859 | C>Y | No |
ClinGen Ensembl |
|
|
CA212309640 rs868797781 |
861 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
COSM914296 rs868797781 CA377965290 |
861 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs771703937 CA5670650 |
861 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1177609107 CA377965294 |
862 | H>P | No |
ClinGen TOPMed |
|
|
CA5670653 rs766381026 |
865 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5670652 rs202176723 |
865 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377965339 rs1446238681 |
866 | N>S | No |
ClinGen gnomAD |
|
|
rs776439020 CA5670654 |
868 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373291118 CA5670655 |
869 | L>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765003075 CA5670656 |
870 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1225410429 CA377965368 |
870 | H>R | No |
ClinGen TOPMed |
|
|
rs1381975431 CA377965374 |
871 | N>T | No |
ClinGen gnomAD |
|
|
rs1564873769 COSM1345533 CA377965379 |
872 | E>K | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA5670659 COSM1195120 rs764133188 |
874 | A>T | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs978450227 CA377965413 |
875 | I>F | No |
ClinGen gnomAD |
|
|
rs978450227 CA377965412 |
875 | I>L | No |
ClinGen gnomAD |
|
|
rs751586358 CA5670660 |
875 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs978450227 CA212309744 |
875 | I>V | No |
ClinGen gnomAD |
2 associated diseases with Q9H8M5
[MIM: 613882]: Hypomagnesemia 6 (HOMG6)
A renal disease characterized by severely lowered serum magnesium levels in the absence of other electrolyte disturbances. Affected individuals show an inappropriately normal urinary magnesium excretion, demonstrating a defect in tubular reabsorption. Age of clinical onset is highly variable and some affected individuals are asymptomatic. {ECO:0000269|PubMed:21397062}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 616418]: Hypomagnesemia, seizures, and intellectual disability 1 (HOMGSMR1)
A disease characterized by renal wasting of magnesium, low serum magnesium, seizures, and variable degrees of delayed psychomotor development. {ECO:0000269|PubMed:24699222}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A renal disease characterized by severely lowered serum magnesium levels in the absence of other electrolyte disturbances. Affected individuals show an inappropriately normal urinary magnesium excretion, demonstrating a defect in tubular reabsorption. Age of clinical onset is highly variable and some affected individuals are asymptomatic. {ECO:0000269|PubMed:21397062}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A disease characterized by renal wasting of magnesium, low serum magnesium, seizures, and variable degrees of delayed psychomotor development. {ECO:0000269|PubMed:24699222}. Note=The disease is caused by variants affecting the gene represented in this entry.
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| basolateral plasma membrane | The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| magnesium ion transmembrane transporter activity | Enables the transfer of magnesium (Mg) ions from one side of a membrane to the other. |
| transmembrane transporter activity | Enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| magnesium ion homeostasis | Any process involved in the maintenance of an internal steady state of magnesium ions within an organism or cell. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q6P4Q7 | CNNM4 | Metal transporter CNNM4 | Homo sapiens (Human) | PR |
| Q8NE01 | CNNM3 | Metal transporter CNNM3 | Homo sapiens (Human) | PR |
| Q69ZF7 | Cnnm4 | Metal transporter CNNM4 | Mus musculus (Mouse) | PR |
| Q3TWN3 | Cnnm2 | Metal transporter CNNM2 | Mus musculus (Mouse) | PR |
| P0C588 | Cnnm4 | Metal transporter CNNM4 | Rattus norvegicus (Rat) | PR |
| Q8RY60 | CBSDUF7 | DUF21 domain-containing protein At1g47330 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MIGCGACEPK | VKMAGGQAAA | ALPTWKMAAR | RSLSARGRGI | LQAAAGRLLP | LLLLSCCCGA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GGCAAVGENE | ETVIIGLRLE | DTNDVSFMEG | GALRVSERTR | VKLRVYGQNI | NNETWSRIAF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TEHERRRHSP | GERGLGGPAP | PEPDSGPQRC | GIRTSDIIIL | PHIILNRRTS | GIIEIEIKPL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RKMEKSKSYY | LCTSLSTPAL | GAGGSGSTGG | AVGGKGGSGV | AGLPPPPWAE | TTWIYHDGED |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TKMIVGEEKK | FLLPFWLQVI | FISLLLCLSG | MFSGLNLGLM | ALDPMELRIV | QNCGTEKEKN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| YAKRIEPVRR | QGNYLLCSLL | LGNVLVNTTL | TILLDDIAGS | GLVAVVVSTI | GIVIFGEIVP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QAICSRHGLA | VGANTIFLTK | FFMMMTFPAS | YPVSKLLDCV | LGQEIGTVYN | REKLLEMLRV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TDPYNDLVKE | ELNIIQGALE | LRTKTVEDVM | TPLRDCFMIT | GEAILDFNTM | SEIMESGYTR |
| 490 | 500 | 510 | 520 | 530 | 540 |
| IPVFEGERSN | IVDLLFVKDL | AFVDPDDCTP | LKTITKFYNH | PLHFVFNDTK | LDAMLEEFKK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GKSHLAIVQR | VNNEGEGDPF | YEVLGIVTLE | DVIEEIIKSE | ILDETDLYTD | NRTKKKVAHR |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ERKQDFSAFK | QTDSEMKVKI | SPQLLLAMHR | FLATEVEAFS | PSQMSEKILL | RLLKHPNVIQ |
| 670 | 680 | 690 | 700 | 710 | 720 |
| ELKYDEKNKK | APEYYLYQRN | KPVDYFVLIL | QGKVEVEAGK | EGMKFEASAF | SYYGVMALTA |
| 730 | 740 | 750 | 760 | 770 | 780 |
| SPVPLSLSRT | FVVSRTELLA | AGSPGENKSP | PRPCGLNHSD | SLSRSDRIDA | VTPTLGSSNN |
| 790 | 800 | 810 | 820 | 830 | 840 |
| QLNSSLLQVY | IPDYSVRALS | DLQFVKISRQ | QYQNALMASR | MDKTPQSSDS | ENTKIELTLT |
| 850 | 860 | 870 | |||
| ELHDGLPDET | ANLLNEQNCV | THSKANHSLH | NEGAI |