Q8TB73
PR
Gene name |
NDNF (C4orf31, UNQ2748/PRO6487) |
Protein name |
Protein NDNF |
Names |
Neuron-derived neurotrophic factor |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79625 |
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
1 structures for Q8TB73
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8TB73-F1 | Predicted | AlphaFoldDB |
451 variants for Q8TB73
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1727077385 RCV001034704 |
62 | K>* | Hypogonadotropic hypogonadism 25 with anosmia [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_084037 | 62 | K>del | HH25; loss of protein expression [UniProt] | Yes | UniProt |
|
rs1726901153 RCV001034705 |
128 | Y>missing | Hypogonadotropic hypogonadism 25 with anosmia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs200466645 VAR_084038 CA3061747 |
201 | T>S | HH25; no effect on protein abundance; no effect on function in cellular response to fibroblast growth factor stimulus [UniProt] | Yes |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001034706 rs1726871489 |
469 | W>* | Hypogonadotropic hypogonadism 25 with anosmia [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_084039 | 469 | W>del | HH25; no effect on protein abundance; decreased secretion; loss of function in cellular response to fibroblast growth factor stimulus [UniProt] | Yes | UniProt |
|
rs749842184 CA3061890 |
2 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 5 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358217184 rs1425613951 |
6 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3061887 rs748156175 |
11 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1579312837 CA358217143 |
12 | L>P | No |
ClinGen Ensembl |
|
|
CA3061886 rs781487653 |
14 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1266608820 CA358217127 |
15 | L>V | No |
ClinGen gnomAD |
|
|
rs751398295 CA3061884 |
17 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA358217106 rs1207248293 |
18 | R>T | No |
ClinGen Ensembl |
|
| TCGA novel | 20 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 20 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1309440977 CA358217088 |
21 | K>E | No |
ClinGen gnomAD |
|
|
rs765264077 CA3061880 |
24 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202087102 CA105147788 COSM1198846 |
25 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
COSM447297 rs994851514 CA105147789 |
25 | R>W | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA358217056 rs1560605319 |
26 | D>H | No |
ClinGen Ensembl |
|
|
CA358217049 rs1406153824 |
27 | E>K | No |
ClinGen gnomAD |
|
|
CA358217022 rs1463875372 |
30 | F>C | No |
ClinGen gnomAD |
|
|
CA358217019 rs1355867475 |
31 | Q>K | No |
ClinGen gnomAD |
|
|
CA358217015 rs1170720479 |
31 | Q>R | No |
ClinGen gnomAD |
|
|
CA358217006 rs1426667729 |
32 | M>R | No |
ClinGen gnomAD |
|
|
CA3061876 CA358216998 rs760205671 |
33 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs763830421 CA3061878 |
33 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA3061877 rs763830421 |
33 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA3061875 rs368314253 |
35 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1175215245 CA358216987 |
35 | R>L | No |
ClinGen gnomAD |
|
|
rs1175215245 CA358216988 |
35 | R>P | No |
ClinGen gnomAD |
|
|
COSM1050519 rs1175215245 CA358216989 |
35 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA358216990 rs368314253 |
35 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358216982 rs1238486549 |
36 | D>G | No |
ClinGen TOPMed |
|
|
rs1481500594 CA358216977 |
37 | K>E | No |
ClinGen gnomAD |
|
|
rs771340831 CA358216969 |
38 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1731983 CA3061874 rs771340831 |
38 | A>T | NS [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA3061873 rs763298175 |
38 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA358216955 rs1579312722 |
40 | F>C | No |
ClinGen Ensembl |
|
| TCGA novel | 40 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773710298 CA3061872 |
41 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 41 | H>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773710298 CA358216947 |
41 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA105147787 rs770226517 |
43 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 43 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3061871 rs770226517 |
43 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 44 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1393438550 CA358216921 |
45 | V>A | No |
ClinGen gnomAD |
|
|
CA3061868 rs768753287 |
49 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs747249016 CA3061867 |
50 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1359224302 CA358216882 |
51 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 52 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs540385907 CA3061866 |
52 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA358216879 rs1403230080 |
52 | I>V | No |
ClinGen gnomAD |
|
|
rs1481960954 CA358216871 |
53 | S>N | No |
ClinGen TOPMed |
|
|
rs1579312684 CA358216868 |
53 | S>R | No |
ClinGen Ensembl |
|
|
CA358216859 rs1469887047 |
54 | S>R | No |
ClinGen gnomAD |
|
|
CA358216857 rs1363099545 |
55 | Y>H | No |
ClinGen gnomAD |
|
|
rs1579312676 CA358216849 |
56 | L>V | No |
ClinGen Ensembl |
|
|
CA105147785 rs994141874 |
59 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 59 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750176882 CA3061864 |
60 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM301843 rs765421425 CA3061862 |
61 | P>H | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs765421425 CA105147784 |
61 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA3061863 rs779009696 |
61 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs2276959 CA358216808 CA358216807 |
62 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 63 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs986987347 CA105147219 |
66 | F>S | No |
ClinGen Ensembl |
|
|
CA358216559 rs1371153610 |
69 | E>K | No |
ClinGen TOPMed |
|
|
rs1351003033 CA358216540 |
71 | D>G | No |
ClinGen Ensembl |
|
|
rs1164427987 CA358216504 |
76 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1475232431 CA358216502 |
77 | V>I | No |
ClinGen gnomAD |
|
|
rs754580899 CA3061837 |
78 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA3061835 rs201745396 |
80 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764598097 CA3061832 |
81 | P>A | No |
ClinGen ExAC gnomAD |
|
|
COSM1753514 rs760685718 CA3061831 |
84 | A>V | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs772455118 CA3061829 |
91 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA358216402 rs1284245925 |
92 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA105147217 rs761571556 |
92 | L>R | No |
ClinGen Ensembl |
|
|
CA3061827 rs374038488 |
97 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA105147216 rs918910697 |
99 | R>G | No |
ClinGen TOPMed |
|
| TCGA novel | 99 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1329294369 CA358216311 |
100 | S>G | No |
ClinGen gnomAD |
|
|
rs267600004 CA105147215 |
101 | G>E | No |
ClinGen Ensembl |
|
|
CA3061823 CA3061825 rs200916360 |
101 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3061824 rs200916360 |
101 | G>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA358216288 rs1579309539 |
102 | E>G | No |
ClinGen Ensembl |
|
|
CA3061821 rs780716248 |
103 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA3061802 rs746453625 |
105 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA3061801 rs779590312 |
106 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779590312 CA358216099 |
106 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1352802266 CA358216079 |
109 | P>A | No |
ClinGen TOPMed |
|
|
CA358216068 rs1325079912 |
111 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA105146928 rs765271498 |
113 | Q>R | No |
ClinGen Ensembl |
|
|
rs756413099 CA3061797 |
115 | Q>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 116 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358216025 rs1163703774 |
116 | Q>L | No |
ClinGen Ensembl |
|
|
CA358216021 rs1281105747 |
117 | I>V | No |
ClinGen gnomAD |
|
|
CA358216014 rs1382243489 |
118 | I>V | No |
ClinGen gnomAD |
|
|
rs370720714 CA3061795 |
119 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759701801 CA3061794 |
120 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs751640973 CA3061793 |
121 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 122 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3061792 rs766536568 |
123 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1426217659 CA358215977 |
123 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA358215978 rs1426217659 |
123 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA358215975 rs1579307442 |
124 | E>K | No |
ClinGen Ensembl |
|
|
CA358215963 rs1410840968 |
125 | L>F | No |
ClinGen gnomAD |
|
|
rs187310450 CA3061790 |
126 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1444414089 CA358215952 |
127 | S>A | No |
ClinGen gnomAD |
|
|
CA3061789 rs769685092 |
128 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA3061788 rs761594189 |
129 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3061787 rs776556518 |
129 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs768527501 CA3061786 |
130 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs373846047 CA3061785 |
131 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373846047 CA105146926 |
131 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1445166259 CA358215908 |
134 | E>* | No |
ClinGen gnomAD |
|
|
rs779577543 COSM279416 CA3061784 |
138 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs745584498 CA3061782 |
139 | S>C | No |
ClinGen ExAC |
|
|
rs778418092 CA3061781 |
140 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs116184437 CA3061780 |
140 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA358215805 rs1379953423 |
142 | P>A | No |
ClinGen gnomAD |
|
|
rs1269635189 CA358215797 |
142 | P>L | No |
ClinGen gnomAD |
|
|
CA3061778 rs183552860 |
144 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1299349129 CA358215776 |
144 | G>V | No |
ClinGen gnomAD |
|
|
rs3733559 CA3061777 |
145 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs372523336 CA3061775 |
146 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA105146925 rs368241121 |
147 | Q>H | No |
ClinGen ESP |
|
|
rs762925645 CA3061774 |
149 | D>V | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 150 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750727519 CA3061773 |
154 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA358215630 rs765312059 |
156 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 156 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3061772 rs765312059 |
156 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1414108213 CA358215624 |
157 | T>A | No |
ClinGen gnomAD |
|
|
rs1185376149 CA358215592 |
159 | F>Y | No |
ClinGen gnomAD |
|
|
CA358215564 rs1243707164 |
161 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA358215552 rs1237808985 |
162 | Y>C | No |
ClinGen TOPMed |
|
|
CA358215561 rs1217327138 |
162 | Y>D | No |
ClinGen gnomAD |
|
|
CA358215559 rs1217327138 COSM732819 |
162 | Y>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA3061768 rs760645674 |
166 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA105146924 rs1023239764 |
168 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 169 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs977775902 CA105146923 |
170 | D>A | No |
ClinGen Ensembl |
|
| TCGA novel | 170 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1220563559 CA358215483 |
172 | P>S | No |
ClinGen gnomAD |
|
|
CA105146922 rs192856799 |
173 | Y>H | No |
ClinGen 1000Genomes gnomAD |
|
|
rs774064376 CA3061764 |
174 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs745307819 CA3061765 |
174 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs375928199 CA3061763 |
176 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748553660 CA3061762 |
177 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1305293911 CA358215093 |
182 | V>A | No |
ClinGen gnomAD |
|
|
CA358215098 rs1435738412 |
182 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA358215082 rs1458755515 |
183 | D>G | No |
ClinGen gnomAD |
|
|
CA358215080 rs1458755515 |
183 | D>V | No |
ClinGen gnomAD |
|
|
CA105146921 rs201759555 |
184 | V>M | No |
ClinGen 1000Genomes TOPMed |
|
|
rs781717177 CA3061761 |
185 | T>I | No |
ClinGen ExAC |
|
|
CA3061759 rs747607712 |
187 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358215055 rs1407708631 |
187 | L>R | No |
ClinGen gnomAD |
|
|
rs201235432 CA3061757 COSM304869 |
189 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs201235432 CA105146920 |
189 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3061756 rs747243634 |
189 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757434459 CA3061754 |
191 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs199541505 CA3061753 |
191 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA358215033 rs1309307300 |
192 | V>A | No |
ClinGen gnomAD |
|
|
rs760451470 CA3061751 |
192 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA105146918 rs1016447774 |
198 | P>Q | No |
ClinGen Ensembl |
|
|
rs759106878 CA3061748 |
198 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA358214987 rs1373139377 |
199 | S>N | No |
ClinGen gnomAD |
|
|
CA358214980 rs1297231652 |
200 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 201 | T>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1398872076 CA358214969 |
202 | A>S | No |
ClinGen TOPMed |
|
| TCGA novel | 202 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770532994 CA358214962 COSM447296 |
203 | S>C | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3061746 rs770532994 |
203 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 205 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA105146917 rs888536024 |
208 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA105146916 rs1048350491 |
209 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA358214916 rs1468850185 |
210 | Q>H | No |
ClinGen gnomAD |
|
|
CA3061745 rs748994984 |
210 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA3061744 rs370140240 |
212 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358214889 rs1178234997 |
214 | V>A | No |
ClinGen gnomAD |
|
|
rs1320240771 CA358214878 |
216 | N>Y | No |
ClinGen TOPMed |
|
|
CA358214867 rs1579307075 |
217 | K>I | No |
ClinGen Ensembl |
|
|
CA3061743 rs202221151 |
218 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747273592 CA3061742 |
220 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs780627480 CA3061741 |
224 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA358214810 rs1239037791 |
225 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1239037791 CA358214809 |
225 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA3061740 rs758786906 |
226 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA358214804 rs758786906 |
226 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA3061739 COSM1050517 rs745994635 |
226 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 229 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1456444162 CA358214769 |
231 | L>R | No |
ClinGen TOPMed |
|
|
rs779006019 CA3061738 |
232 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3061736 rs754118720 |
233 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA3061737 rs370864164 |
233 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201068063 CA3061735 |
234 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA105146915 rs1007612983 |
236 | A>D | No |
ClinGen TOPMed |
|
|
rs1225857134 CA358214724 |
238 | M>R | No |
ClinGen gnomAD |
|
|
rs542131284 CA3061734 |
240 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA358214701 rs1451278770 |
241 | P>L | No |
ClinGen gnomAD |
|
|
rs1451278770 CA358214702 |
241 | P>R | No |
ClinGen gnomAD |
|
|
rs371246314 CA3061731 |
244 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs139384833 CA3061729 |
249 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs762545868 CA3061728 |
252 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA3061727 rs773001030 |
253 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1422307599 CA358214593 |
257 | F>S | No |
ClinGen TOPMed |
|
|
CA3061725 rs761126466 COSM447295 |
258 | P>L | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs779264668 CA3061723 |
259 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3061724 rs779264668 |
259 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358214580 rs779264668 |
259 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1259499797 CA358214570 |
261 | N>D | No |
ClinGen gnomAD |
|
|
rs746411172 CA358214556 |
263 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs779380661 CA3061721 |
263 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs746411172 CA3061722 |
263 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs749301679 CA3061719 |
265 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs201775943 CA3061718 COSM1050514 |
266 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs375890636 CA3061717 COSM347640 |
266 | R>H | lung Variant assessed as Somatic; 0.0 impact. oesophagus large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs201775943 CA105146911 |
266 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1579306915 CA358214535 |
267 | S>R | No |
ClinGen Ensembl |
|
| TCGA novel | 269 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752931599 CA3061716 |
269 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs754784780 CA3061714 |
272 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs754784780 CA3061715 |
272 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA3061713 rs751610469 |
273 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA105146910 rs917601186 |
275 | K>Q | No |
ClinGen Ensembl |
|
|
rs1360993084 CA358214426 |
277 | G>R | No |
ClinGen gnomAD |
|
|
CA3061710 COSM1426608 rs372865079 |
278 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs139074901 CA3061709 |
278 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs990534455 CA105146909 |
280 | V>I | No |
ClinGen Ensembl |
|
|
CA3061708 rs146190235 |
281 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3061707 rs146190235 |
281 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3061706 rs772379451 |
282 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1428001168 CA358214362 |
282 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 284 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358214330 rs1321669711 |
285 | K>E | No |
ClinGen TOPMed |
|
|
rs141599938 CA3061705 |
285 | K>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1014914987 CA105146908 |
286 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3061703 rs771377467 |
288 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1265801558 CA358214227 |
292 | C>Y | No |
ClinGen TOPMed |
|
|
CA3061701 rs148222810 |
293 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1266853784 CA358214209 |
293 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs148222810 CA3061702 |
293 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM3674088 CA358214179 rs1262015412 |
295 | N>K | prostate [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1560602176 CA358214185 |
295 | N>S | No |
ClinGen Ensembl |
|
|
CA3061700 rs769894776 |
296 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs1325413139 CA358214130 |
299 | F>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 300 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754730831 CA3061697 |
301 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs751338399 CA3061696 |
306 | P>S | No |
ClinGen ExAC gnomAD |
|
|
COSM1050512 rs758373774 CA3061694 |
307 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs143991157 CA105146907 |
308 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143991157 CA3061693 |
308 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs149509624 CA105146905 |
312 | F>L | No |
ClinGen ESP TOPMed |
|
|
rs1227119102 CA358213961 |
313 | D>G | No |
ClinGen TOPMed |
|
|
CA3061688 rs759909636 |
314 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA358213949 rs759909636 |
314 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1478410315 CA358213915 |
317 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA358213903 rs1268822345 |
318 | N>Y | No |
ClinGen gnomAD |
|
|
CA3061687 rs774655851 |
323 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA105146904 rs374886845 |
324 | S>G | No |
ClinGen Ensembl |
|
|
CA358213842 rs1216304897 |
324 | S>N | No |
ClinGen TOPMed |
|
|
rs1579306746 CA358213832 |
325 | T>I | No |
ClinGen Ensembl |
|
|
rs147005679 CA3061684 |
326 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs893221711 CA105146903 |
330 | T>A | No |
ClinGen Ensembl |
|
|
rs202121255 CA3061682 |
333 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1318441090 CA358213779 |
334 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA358213780 rs1318441090 |
334 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1282565130 CA358213774 |
335 | K>E | No |
ClinGen gnomAD |
|
|
rs201470920 CA3061680 |
336 | E>G | No |
ClinGen 1000Genomes ExAC |
|
|
rs775145403 CA105146901 |
337 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs780039269 CA3061678 |
338 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA358213734 rs1391081712 |
340 | Q>H | No |
ClinGen gnomAD |
|
|
rs1000683992 CA105146900 |
340 | Q>P | No |
ClinGen Ensembl |
|
|
CA3061676 rs139006407 |
341 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147317662 CA3061674 |
341 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3061675 rs139006407 |
341 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756725309 CA3061673 |
342 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1273542298 CA358213722 |
343 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA105146898 rs553294108 |
344 | E>A | No |
ClinGen 1000Genomes |
|
|
rs1560602067 CA358213711 |
344 | E>D | No |
ClinGen Ensembl |
|
|
rs182647465 CA105146899 |
344 | E>K | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA358213693 rs1199090260 |
347 | D>G | No |
ClinGen gnomAD |
|
|
rs1053333921 CA105146896 CA358213689 |
348 | G>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 350 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752323006 CA3061669 |
351 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs763295881 CA3061667 |
352 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1694924 rs766787215 CA3061668 |
352 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs937693864 CA105146895 |
353 | V>I | No |
ClinGen Ensembl |
|
|
CA3061665 rs765713869 |
354 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA358213641 rs1560602036 |
355 | V>A | No |
ClinGen Ensembl |
|
|
rs1238086552 CA358213639 |
356 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA3061663 rs570604236 |
357 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3061662 rs758168796 |
357 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3061661 rs747288288 |
358 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358213618 rs775847008 |
359 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3061660 rs775847008 |
359 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868169962 CA105146893 |
359 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA105146892 rs62325232 |
363 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs62325232 CA358213594 |
363 | L>V | No |
ClinGen gnomAD |
|
|
CA105146891 rs561208343 |
364 | R>L | No |
ClinGen TOPMed |
|
|
CA358213589 COSM1694923 rs561208343 |
364 | R>Q | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA3061658 rs151063601 |
364 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA358213582 rs1158296235 |
365 | F>C | No |
ClinGen gnomAD |
|
|
rs1468930119 CA358213572 |
367 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 367 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3061657 rs778730817 |
368 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA358213558 rs1439753648 |
369 | S>F | No |
ClinGen gnomAD |
|
|
CA3061656 rs757172180 |
369 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1364121914 CA358213529 |
373 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 373 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3061654 rs777390211 |
373 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1424687228 CA358213525 |
374 | V>G | No |
ClinGen TOPMed |
|
|
CA3061653 rs755607548 |
375 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA3061652 rs143734180 |
375 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3061650 rs758772990 |
380 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA358213473 rs1333469582 |
382 | L>V | No |
ClinGen TOPMed |
|
|
CA3061649 rs750747993 |
383 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA358213449 rs1401068327 |
386 | Q>E | No |
ClinGen TOPMed |
|
|
rs762425792 CA3061648 |
386 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs762425792 CA3061647 |
386 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs140044869 CA3061646 |
389 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs140044869 CA3061645 |
389 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3061644 rs760832661 |
390 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1370765710 CA358213411 |
392 | D>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 392 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358213401 rs1333245792 |
393 | G>E | No |
ClinGen TOPMed |
|
|
CA358213387 rs1234388047 |
395 | L>H | No |
ClinGen TOPMed |
|
|
rs772364164 CA3061642 |
396 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA3061639 rs774239705 |
400 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA358213353 rs1317928618 |
401 | V>M | No |
ClinGen TOPMed |
|
|
CA105146890 rs919433409 |
404 | I>T | No |
ClinGen gnomAD |
|
|
CA358213316 rs1179547208 |
406 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA358213315 rs1179547208 |
406 | Q>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 409 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3061638 rs770609274 |
410 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA358213280 rs1237977417 |
411 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3061637 rs749304815 |
412 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA358213270 rs1487172901 |
413 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA105146889 rs111583710 |
414 | K>R | No |
ClinGen Ensembl |
|
|
rs1217104878 CA358213253 |
415 | A>D | No |
ClinGen gnomAD |
|
|
CA358213256 rs1287947234 |
415 | A>T | No |
ClinGen gnomAD |
|
|
CA3061636 rs777682795 |
417 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA105146888 rs992511066 |
417 | Y>H | No |
ClinGen TOPMed |
|
|
rs769294164 CA3061635 |
418 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs202169296 CA3061633 |
419 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202169296 CA105146887 |
419 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA105146886 rs745563516 |
420 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3061630 rs201892645 |
420 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3061631 COSM732821 rs201892645 |
420 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA358213220 rs1342974585 |
422 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 423 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA105146885 rs752598151 |
424 | N>S | No |
ClinGen TOPMed |
|
|
rs1182488275 CA358213177 |
428 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA358213178 rs1182488275 |
428 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA358213162 rs1393493365 |
430 | M>T | No |
ClinGen TOPMed |
|
|
rs1323350680 CA358213149 |
432 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 434 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358213125 rs1343956700 |
435 | A>V | No |
ClinGen TOPMed |
|
|
rs764632595 CA3061627 |
436 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3061626 rs760854927 |
438 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA3061625 rs752779002 |
438 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1488684895 CA358213101 |
440 | T>A | No |
ClinGen gnomAD |
|
|
rs767885830 CA3061624 |
440 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3061623 rs759848890 |
443 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1224119020 CA358213052 |
445 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA358213058 rs1245187391 |
445 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3061622 rs774420436 |
446 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1272330510 CA358213030 |
448 | P>T | No |
ClinGen gnomAD |
|
|
CA358212988 rs1267213161 |
451 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs770822561 CA3061621 |
451 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 452 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3061619 rs762583822 |
455 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1366001298 CA358212897 |
457 | D>E | No |
ClinGen gnomAD |
|
|
CA3061617 rs143875438 |
460 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3061616 rs747685788 COSM1731982 |
460 | R>H | Variant assessed as Somatic; 0.0 impact. NS [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs559657072 CA3061615 |
461 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1330032255 CA358212848 |
462 | C>R | No |
ClinGen gnomAD |
|
|
CA3061614 rs768030210 |
462 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs778449790 CA3061608 |
466 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753230983 CA3061606 |
467 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767760684 CA358212770 |
468 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767760684 CA3061605 |
468 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs999356853 CA105146882 |
468 | A>V | No |
ClinGen Ensembl |
|
|
CA358212746 rs1196756493 |
469 | W>C | No |
ClinGen gnomAD |
|
|
CA3061604 rs755005486 |
470 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs751807665 CA3061603 |
472 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1223491301 CA358212716 |
472 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 473 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3061601 rs762828906 |
475 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772951169 CA3061600 |
476 | N>K | No |
ClinGen ExAC |
|
|
CA105146881 rs1041408706 |
477 | K>N | No |
ClinGen TOPMed |
|
|
rs1367797091 CA358212629 |
479 | C>G | No |
ClinGen gnomAD |
|
|
CA358212627 rs1308083026 |
479 | C>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 482 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1401906645 CA358212586 |
483 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 484 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1008241793 CA105146880 |
484 | E>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 486 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3061597 rs761790156 |
486 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs768280639 CA3061596 |
487 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768280639 CA3061595 |
487 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358212484 rs1433565750 |
490 | N>K | No |
ClinGen gnomAD |
|
|
CA358212487 rs1177901167 |
490 | N>S | No |
ClinGen gnomAD |
|
|
CA3061593 rs775226205 |
492 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3061591 COSM1246853 rs749704430 |
494 | K>T | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs778325003 CA3061590 |
496 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1053021247 CA105146879 |
497 | E>Q | No |
ClinGen TOPMed |
|
|
rs756530609 CA3061589 |
497 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs368469233 CA3061588 |
498 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358212425 rs1211179158 |
499 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 500 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1286408531 CA358212386 |
504 | P>Q | No |
ClinGen TOPMed |
|
|
rs1316757756 CA358212370 |
506 | I>M | No |
ClinGen gnomAD |
|
|
CA358212339 rs1284840141 |
511 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA105146878 rs1013457950 |
513 | V>F | No |
ClinGen Ensembl |
|
|
CA105146877 rs143169450 |
520 | S>R | No |
ClinGen ESP TOPMed |
|
|
CA105146876 rs374404232 |
520 | S>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs147508531 CA3061585 |
521 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA358212230 rs1304587614 |
526 | A>T | No |
ClinGen gnomAD |
|
|
CA3061582 rs750619386 |
526 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 528 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3061581 rs574941094 |
531 | T>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1269168319 CA358212184 |
533 | K>T | No |
ClinGen gnomAD |
|
|
rs761593820 CA3061580 |
534 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 535 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 536 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358212155 rs1421707765 |
537 | P>L | No |
ClinGen gnomAD |
|
|
CA105146875 rs866198845 |
538 | G>D | No |
ClinGen Ensembl |
|
|
rs555099921 CA105146874 |
541 | Y>F | No |
ClinGen 1000Genomes |
|
|
rs776554502 CA3061579 |
542 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150533956 CA3061578 |
543 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3061575 rs771582859 |
544 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1203353850 CA358212109 |
545 | V>A | No |
ClinGen gnomAD |
|
|
rs774139448 CA3061574 |
548 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs770283562 CA3061572 |
548 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs774139448 CA3061573 |
548 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1579306007 CA358212066 |
552 | G>E | No |
ClinGen Ensembl |
|
|
rs781733721 CA3061570 |
553 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA3061569 rs769002924 |
555 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1242181568 CA358212041 |
556 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 558 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358212018 rs1316060902 |
559 | S>T | No |
ClinGen TOPMed |
|
|
rs1296061948 CA358212005 |
561 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs938378748 CA105146873 |
562 | V>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 563 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3061565 rs750712579 |
565 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA3061563 rs757058614 |
568 | C>Y | No |
ClinGen ExAC gnomAD |
1 associated diseases with Q8TB73
[MIM: 618841]: Hypogonadotropic hypogonadism 25 with anosmia (HH25)
A form of hypogonadotropic hypogonadism, a group of disorders characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone, and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). HH25 is an autosomal dominant form with anosmia, characterized by intrafamilial variable expressivity and incomplete penetrance. {ECO:0000269|PubMed:31883645}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of hypogonadotropic hypogonadism, a group of disorders characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone, and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). HH25 is an autosomal dominant form with anosmia, characterized by intrafamilial variable expressivity and incomplete penetrance. {ECO:0000269|PubMed:31883645}. Note=The disease is caused by variants affecting the gene represented in this entry.
3 regional properties for Q8TB73
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Fibronectin type III | 174 - 325 | IPR003961-1 |
| domain | Fibronectin type III | 445 - 554 | IPR003961-2 |
| domain | Protein NDNF, C-terminal | 395 - 568 | IPR045805 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| extracellular matrix | A structure lying external to one or more cells, which provides structural support, biochemical or biomechanical cues for cells or tissues. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| glycosaminoglycan binding | Binding to a glycan (polysaccharide) containing a substantial proportion of aminomonosaccharide residues. |
| heparin binding | Binding to heparin, a member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells and which consist predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues. |
14 GO annotations of biological process
| Name | Definition |
|---|---|
| angiogenesis | Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels. |
| cellular response to fibroblast growth factor stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an fibroblast growth factor stimulus. |
| cellular response to hypoxia | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. |
| extracellular matrix organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an extracellular matrix. |
| gonadotrophin-releasing hormone neuronal migration to the hypothalamus | The directional movement of a gonadotrophin-releasing hormone producing neuron from the nasal placode to the hypothalamus. |
| negative regulation of endothelial cell apoptotic process | Any process that stops, prevents or reduces the frequency, rate or extent of endothelial cell apoptotic process. |
| negative regulation of neuron apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process in neurons. |
| neuron migration | The characteristic movement of an immature neuron from germinal zones to specific positions where they will reside as they mature. |
| nitric oxide mediated signal transduction | Any intracellular signal transduction in which the signal is passed on within the cell via nitric oxide (NO). Includes synthesis of nitric oxide, receptors/sensors for nitric oxide (such as soluble guanylyl cyclase/sGC) and downstream effectors that further transmit the signal within the cell. Nitric oxide transmits its downstream effects through either cyclic GMP (cGMP)-dependent or independent mechanisms. |
| peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan | The formation of a cross-link between peptide chains mediated by a chondroitin 4-sulfate glycosaminoglycan that originates from a typical O-glycosidic link to serine of one chain; the other chain is esterified, via the alpha-carbon of its C-terminal Asp, to C-6 of an internal N-acetylgalactosamine of the glycosaminoglycan chain. |
| positive regulation of cell-substrate adhesion | Any process that increases the frequency, rate or extent of cell-substrate adhesion. Cell-substrate adhesion is the attachment of a cell to the underlying substrate via adhesion molecules. |
| positive regulation of neuron projection development | Any process that increases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). |
| response to ischemia | Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a inadequate blood supply. |
| vascular wound healing | Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels and contribute to the series of events that restore integrity to damaged vasculature. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVLLHWCLLW | LLFPLSSRTQ | KLPTRDEELF | QMQIRDKAFF | HDSSVIPDGA | EISSYLFRDT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PKRYFFVVEE | DNTPLSVTVT | PCDAPLEWKL | SLQELPEDRS | GEGSGDLEPL | EQQKQQIINE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EGTELFSYKG | NDVEYFISSS | SPSGLYQLDL | LSTEKDTHFK | VYATTTPESD | QPYPELPYDP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RVDVTSLGRT | TVTLAWKPSP | TASLLKQPIQ | YCVVINKEHN | FKSLCAVEAK | LSADDAFMMA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PKPGLDFSPF | DFAHFGFPSD | NSGKERSFQA | KPSPKLGRHV | YSRPKVDIQK | ICIGNKNIFT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VSDLKPDTQY | YFDVFVVNIN | SNMSTAYVGT | FARTKEEAKQ | KTVELKDGKI | TDVFVKRKGA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KFLRFAPVSS | HQKVTFFIHS | CLDAVQIQVR | RDGKLLLSQN | VEGIQQFQLR | GKPKAKYLVR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LKGNKKGASM | LKILATTRPT | KQSFPSLPED | TRIKAFDKLR | TCSSATVAWL | GTQERNKFCI |
| 490 | 500 | 510 | 520 | 530 | 540 |
| YKKEVDDNYN | EDQKKREQNQ | CLGPDIRKKS | EKVLCKYFHS | QNLQKAVTTE | TIKGLQPGKS |
| 550 | 560 | ||||
| YLLDVYVIGH | GGHSVKYQSK | VVKTRKFC |