Q96Q45
PR
Gene name |
TMEM237 (ALS2CR4) |
Protein name |
Transmembrane protein 237 |
Names |
Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 4 protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:65062 |
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 Q96Q45
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96Q45-F1 | Predicted | AlphaFoldDB |
370 variants for Q96Q45
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs957203033 RCV002241358 RCV001230848 |
1 | M>V | Joubert syndrome 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001242678 CA2056706 rs562984785 |
5 | S>L | Joubert syndrome 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001339726 CA63963847 rs972949531 |
8 | R>W | Joubert syndrome 14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1319201699 RCV001221418 CA350317724 |
11 | E>K | Joubert syndrome 14 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs199469707 RCV000024179 RCV002265568 RCV000034999 CA260000 RCV001701641 |
18 | R>* | Joubert syndrome and related disorders Joubert syndrome 14 (jbts14) Joubert syndrome 14 Joubert syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1574587553 RCV000825548 RCV001784458 |
21 | P>missing | Joubert syndrome Joubert syndrome 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000024182 CA260005 rs387907131 |
26 | Q>* | Joubert syndrome 14 (jbts14) Joubert syndrome 14 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs200714434 RCV000413936 RCV000945894 CA2056583 |
33 | R>C | Joubert syndrome 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2056582 RCV001041697 RCV003148918 rs576586379 |
33 | R>H | Joubert syndrome 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1559590115 RCV001296343 CA350316195 |
34 | P>L | Joubert syndrome 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1269827788 CA350316042 RCV001342106 |
50 | L>S | Joubert syndrome 14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001138789 rs1687306098 |
53 | L>F | Joubert syndrome 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000799028 rs999613520 CA63958512 |
57 | A>T | Joubert syndrome 14 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002536816 CA2056554 RCV000879981 rs199624987 RCV001563528 |
59 | R>Q | Joubert syndrome 14 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000945762 rs141817764 RCV001570837 CA2056552 RCV000252738 |
65 | N>S | Joubert syndrome 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2056547 RCV001772308 rs367728637 RCV001071533 |
76 | P>T | Joubert syndrome 14 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001047396 CA2056543 RCV001551260 rs373811074 |
84 | Q>R | Joubert syndrome 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001234154 rs376578633 CA2056523 |
96 | S>F | Joubert syndrome 14 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1324625933 CA350314292 RCV001037051 |
98 | T>I | Joubert syndrome 14 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1687222402 RCV001057786 |
104 | S>N | Joubert syndrome 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA350314186 rs1186656902 RCV001223614 RCV001529034 |
106 | S>C | Joubert syndrome 14 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000519206 rs1553660992 CA350314130 RCV001345807 |
110 | N>K | Joubert syndrome 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs772680401 RCV001302872 CA2056511 |
122 | A>V | Joubert syndrome 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001049061 rs370790275 CA2056510 |
128 | R>W | Joubert syndrome 14 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA63955656 RCV000785906 rs972221242 |
140 | Q>* | Joubert syndrome 14 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001054483 rs184256195 CA2056475 |
146 | G>A | Joubert syndrome 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs200531617 RCV001048032 CA2056474 RCV000287196 RCV002519236 |
147 | V>I | Joubert syndrome 14 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA350313252 rs771052304 RCV001349155 |
152 | I>L | Joubert syndrome 14 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs199500256 RCV000945384 RCV001593134 CA2056471 |
159 | T>A | Joubert syndrome 14 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2056470 RCV001314705 rs771350638 |
161 | E>G | Joubert syndrome 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001041928 rs781571059 CA2056469 |
167 | T>A | Joubert syndrome 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001062890 CA2056467 rs772074875 |
169 | P>T | Joubert syndrome 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs754056989 RCV001340622 CA2056463 |
185 | R>W | Joubert syndrome 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs374042611 RCV001241394 RCV002563998 CA2056436 |
196 | I>M | Joubert syndrome 14 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2056431 RCV001230128 rs767769973 |
206 | M>I | Variant assessed as Somatic; 0.0 impact. Joubert syndrome 14 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs773685442 CA2056432 RCV001043445 |
206 | M>T | Joubert syndrome 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000649891 CA2056430 rs200467447 |
212 | W>R | Joubert syndrome 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001298973 CA2056429 rs200892635 |
219 | L>P | Joubert syndrome 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002525159 CA2056427 rs749330370 RCV000520159 |
222 | H>R | Joubert syndrome 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA2056425 rs770053080 RCV000311293 |
223 | R>Q | Joubert syndrome 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs759814109 CA2056404 RCV001239783 |
241 | V>M | Joubert syndrome 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10613537 RCV000407414 rs886055448 |
246 | V>M | Joubert syndrome 14 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA2056397 RCV000878657 rs151163650 |
260 | N>D | Joubert syndrome 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001071190 RCV002555904 CA63953600 COSM2907496 rs768672107 |
269 | A>V | Variant assessed as Somatic; 0.0 impact. Joubert syndrome 14 large_intestine Inborn genetic diseases [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA239173 RCV001051114 RCV000173725 rs202130417 |
291 | I>V | Joubert syndrome 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001136548 CA2056364 rs773512396 |
292 | D>V | Joubert syndrome 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000801648 rs775449384 CA2056357 |
301 | R>* | Joubert syndrome 14 (jbts14) Joubert syndrome 14 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001233347 rs1957768968 |
322 | L>R | Joubert syndrome 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000986978 CA2056327 rs372686071 RCV000243342 RCV000402180 |
342 | N>D | Joubert syndrome 1 Joubert syndrome 14 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000024181 rs751952525 |
356 | Q>missing | Joubert syndrome 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1957756375 RCV001316417 |
364 | V>A | Joubert syndrome 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs138509553 RCV001079934 RCV000290466 CA2056302 |
364 | V>M | Joubert syndrome 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000118633 rs73989521 CA155725 RCV000345380 |
366 | A>S | Joubert syndrome 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs886055447 CA10612433 RCV000290602 |
372 | S>C | Joubert syndrome 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001312784 RCV000479691 rs763176756 |
392 | S>missing | Joubert syndrome 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs373445814 RCV001042865 CA2056274 |
395 | E>K | Joubert syndrome 14 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1957737864 RCV001035185 |
398 | P>S | Joubert syndrome 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs761770686 RCV001038201 |
406 | A>missing | Joubert syndrome 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1358717443 CA350317916 |
2 | R>T | No |
ClinGen gnomAD |
|
| TCGA novel | 4 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350317753 rs562984785 |
5 | S>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA350317751 rs1181124704 |
6 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs970880415 CA63963848 |
7 | A>G | No |
ClinGen Ensembl |
|
|
CA350317743 rs1475428514 |
7 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1475428514 CA350317744 |
7 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2056705 rs778373105 |
8 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs778373105 CA350317738 |
8 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs888533259 CA350317737 |
9 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1217330792 CA350317731 |
10 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA350317721 rs1357578155 |
11 | E>A | No |
ClinGen TOPMed |
|
|
rs1319201699 CA350317723 |
11 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 11 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750715798 CA2056703 |
12 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs879773501 CA63961627 |
15 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs560695891 CA2056626 |
15 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs560695891 CA350316749 |
15 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2056625 rs762192903 |
16 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2056624 rs774754921 |
17 | P>S | No |
ClinGen ExAC gnomAD |
|
|
COSM3764829 rs749737508 CA350316721 |
18 | R>L | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs749737508 CA2056623 |
18 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1231539181 CA350316719 |
19 | A>T | No |
ClinGen TOPMed |
|
|
rs1341045400 CA350316703 |
20 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA2056622 rs373956551 |
20 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373956551 CA63961593 |
20 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2056621 rs769861092 |
22 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA63961576 rs866945291 |
24 | P>L | No |
ClinGen Ensembl |
|
|
RCV000731745 rs1559590832 |
25 | S>missing | No |
ClinVar dbSNP |
|
|
rs1304865510 CA350316640 |
25 | S>I | No |
ClinGen gnomAD |
|
|
rs1304865510 CA350316644 |
25 | S>N | No |
ClinGen gnomAD |
|
|
rs1477265868 CA350316285 |
27 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 27 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763253027 CA2056585 |
28 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1318957484 CA350316241 |
30 | P>L | No |
ClinGen gnomAD |
|
|
CA350316235 rs1458601695 |
31 | L>F | No |
ClinGen gnomAD |
|
|
rs1249502343 CA350316225 |
32 | S>G | No |
ClinGen TOPMed |
|
|
CA2056584 rs776007128 |
32 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA350316211 rs200714434 |
33 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA63960036 rs576586379 |
33 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200714434 CA350316213 |
33 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 35 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866395191 CA63960021 |
35 | K>N | No |
ClinGen Ensembl |
|
|
CA2056580 rs776825848 |
35 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs950609309 CA63960003 |
36 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA350316162 rs1256464396 |
37 | K>* | No |
ClinGen Ensembl |
|
|
CA2056577 rs773252871 |
40 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1466642170 CA350316117 |
40 | R>K | No |
ClinGen gnomAD |
|
|
rs772018656 CA2056576 |
41 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350316110 rs1228191186 |
41 | T>K | No |
ClinGen gnomAD |
|
|
CA350316099 rs1559590081 |
43 | N>H | No |
ClinGen Ensembl |
|
|
CA350316094 rs1335675179 |
43 | N>I | No |
ClinGen gnomAD |
|
|
rs1335675179 CA350316096 |
43 | N>S | No |
ClinGen gnomAD |
|
|
rs1297284388 CA350316086 |
44 | T>I | No |
ClinGen TOPMed |
|
|
CA350316088 rs1297284388 |
44 | T>K | No |
ClinGen TOPMed |
|
|
CA350316081 rs1378615642 |
45 | P>Q | No |
ClinGen gnomAD |
|
|
CA350316083 rs1376540567 |
45 | P>S | No |
ClinGen TOPMed |
|
|
CA2056557 rs762108664 |
47 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA350316058 rs1374794179 |
47 | S>T | No |
ClinGen gnomAD |
|
|
rs774346425 CA2056556 |
48 | A>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 49 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350316040 rs1269827788 |
50 | L>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1488249909 CA350316025 |
52 | G>D | No |
ClinGen gnomAD |
|
|
rs1207341022 CA350316017 |
54 | A>T | No |
ClinGen gnomAD |
|
|
rs768568104 CA2056555 |
55 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA350315993 rs1178421368 |
58 | G>S | No |
ClinGen TOPMed |
|
| TCGA novel | 59 | R>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA63958480 rs902145121 |
59 | R>* | Joubert syndrome 14 (jbts14) [Ensembl] | No |
ClinGen Ensembl |
| TCGA novel | 63 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1471149312 CA350315933 |
67 | P>Q | No |
ClinGen TOPMed |
|
|
rs1427581671 CA350315935 |
67 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs376226585 CA2056551 |
69 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA63958441 rs372581479 |
69 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376226585 CA2056550 |
69 | T>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2056549 rs372581479 |
69 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA63958434 rs931444284 |
70 | K>E | No |
ClinGen TOPMed |
|
|
CA350315913 rs1407442522 |
71 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA350315905 rs1369476710 |
72 | L>F | No |
ClinGen gnomAD |
|
|
rs920020528 CA63958425 |
75 | H>Y | No |
ClinGen Ensembl |
|
|
rs367728637 CA63958418 |
76 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2056546 rs779250127 |
77 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA350315867 rs1281635469 |
78 | A>T | No |
ClinGen TOPMed |
|
|
CA2056545 rs755274879 |
79 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1325980885 CA350315852 |
80 | V>A | No |
ClinGen TOPMed |
|
|
rs1482112584 CA350315823 |
84 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs373811074 CA350315825 |
84 | Q>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1251099126 CA350315821 |
85 | K>* | No |
ClinGen gnomAD |
|
|
rs1251099126 CA350315820 |
85 | K>E | No |
ClinGen gnomAD |
|
|
rs1424074136 CA350315788 |
87 | T>I | No |
ClinGen gnomAD |
|
|
rs1254220103 CA350315755 |
90 | P>R | No |
ClinGen gnomAD |
|
|
rs761216483 CA2056541 |
91 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1264290794 CA350314371 |
92 | E>D | No |
ClinGen gnomAD |
|
|
CA63956454 rs929274992 |
92 | E>G | No |
ClinGen gnomAD |
|
|
CA2056524 rs780447853 |
95 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs750961270 CA2056522 |
98 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs866988217 CA63956442 |
99 | Q>K | No |
ClinGen Ensembl |
|
|
CA350314273 rs1388879484 |
100 | K>E | No |
ClinGen gnomAD |
|
|
CA2056520 rs757355382 |
100 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs943907790 CA63956431 |
100 | K>R | No |
ClinGen Ensembl |
|
|
rs1430527300 CA350314257 |
101 | K>E | No |
ClinGen gnomAD |
|
|
rs751855234 CA2056519 |
102 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1400252092 CA350314219 |
104 | S>G | No |
ClinGen TOPMed |
|
|
rs764450175 CA2056518 |
107 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs565778005 CA2056517 |
109 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs777709042 COSM1645063 CA2056516 |
109 | R>Q | salivary_gland Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA350314114 rs1449476235 |
111 | E>G | No |
ClinGen gnomAD |
|
|
rs1205229119 CA350314074 |
113 | G>D | No |
ClinGen gnomAD |
|
|
CA350314082 rs1266282639 |
113 | G>S | No |
ClinGen gnomAD |
|
|
CA2056515 rs765077171 |
114 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350314037 rs1277394149 |
115 | D>G | No |
ClinGen gnomAD |
|
|
CA350314018 rs1339325702 |
116 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2056514 rs759392151 |
116 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2056513 rs770449337 |
117 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA350313994 rs1329527316 |
117 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs17856844 CA2056512 |
118 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs17856844 CA63956405 |
118 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1372559717 CA350313954 |
119 | A>V | No |
ClinGen gnomAD |
|
|
CA2056509 rs747823975 |
128 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA350313771 rs1421155601 |
130 | K>E | No |
ClinGen gnomAD |
|
|
CA350313745 rs1482916156 |
131 | T>K | No |
ClinGen TOPMed |
|
| TCGA novel | 133 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350313535 rs1574581812 |
134 | T>P | No |
ClinGen Ensembl |
|
|
CA2056479 rs766150401 |
136 | P>S | No |
ClinGen ExAC |
|
|
rs760672264 CA2056478 |
137 | A>G | No |
ClinGen ExAC gnomAD |
|
|
COSM1404514 rs1405287041 CA350313423 |
143 | N>D | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs750312169 CA2056477 |
143 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA350313396 rs1385968752 |
144 | E>D | No |
ClinGen gnomAD |
|
|
rs766952530 CA2056476 |
144 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA350313388 rs1158000457 |
145 | L>Q | No |
ClinGen gnomAD |
|
|
CA350313315 rs1443272786 |
150 | E>K | No |
ClinGen gnomAD |
|
|
rs771052304 CA63955619 |
152 | I>V | No |
ClinGen gnomAD |
|
| VAR_067019 | 155 | D>A | found at heterozygosity in a patient with Bardet-Biedl syndrome also carrying BBS6 mutation A-57 in MKKS; hypomorphic variant [UniProt] | No | UniProt |
|
rs762678333 CA2056472 |
157 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350313066 rs1574581747 |
160 | V>G | No |
ClinGen Ensembl |
|
|
CA350312892 rs1299814397 |
168 | A>V | No |
ClinGen TOPMed |
|
|
CA2056468 rs772074875 |
169 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2056466 rs748298490 |
175 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1439451903 CA350312765 |
176 | V>L | No |
ClinGen TOPMed |
|
|
rs778837354 CA2056465 |
177 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA350312732 rs1362852459 |
178 | K>R | No |
ClinGen gnomAD |
|
|
CA350312722 rs1288079302 |
179 | V>L | No |
ClinGen gnomAD |
|
|
CA350312696 rs1300632407 |
180 | F>L | No |
ClinGen TOPMed |
|
|
rs755252433 CA2056464 |
181 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1234599681 | 184 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs80208774 CA63955584 |
184 | S>G | No |
ClinGen Ensembl |
|
| TCGA novel | 184 | S>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1427517308 CA350310985 |
186 | R>I | No |
ClinGen gnomAD |
|
|
rs780203695 CA2056444 |
187 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs755937170 CA63954082 |
190 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755937170 CA2056443 |
190 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA63954072 rs113121789 |
191 | D>A | No |
ClinGen Ensembl |
|
|
rs202092408 CA2056442 |
192 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs186216206 CA2056441 |
192 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA350310837 rs186216206 |
192 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA350310842 rs202092408 |
192 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2056440 rs757282639 |
193 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs763706072 CA2056438 |
195 | L>S | No |
ClinGen ExAC |
|
|
rs757932213 CA2056437 |
196 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1202199961 CA350310771 |
196 | I>V | No |
ClinGen TOPMed |
|
|
rs1298927468 CA350310733 |
197 | K>N | No |
ClinGen gnomAD |
|
|
rs1222457840 CA350310694 |
199 | T>I | No |
ClinGen gnomAD |
|
|
CA2056433 rs370305337 |
206 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1234264076 CA350310529 |
207 | D>A | No |
ClinGen gnomAD |
|
|
rs1440019257 CA350310480 COSM476751 |
209 | K>R | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1574580382 CA350310462 |
210 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 212 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1258434153 CA350310388 |
213 | T>S | No |
ClinGen gnomAD |
|
|
CA63953921 rs17856845 |
215 | R>I | No |
ClinGen Ensembl |
|
|
rs1174747467 CA350310327 |
216 | D>Y | No |
ClinGen gnomAD |
|
|
CA350310246 rs1480206034 |
218 | A>E | No |
ClinGen gnomAD |
|
|
CA350310160 rs1467500208 |
222 | H>Q | No |
ClinGen TOPMed |
|
|
CA2056428 rs768750370 |
222 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2056426 rs775520529 |
223 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs746071632 CA2056423 |
224 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1329382383 CA350310041 |
226 | R>K | No |
ClinGen gnomAD |
|
|
CA16617416 rs1064796917 RCV000484379 |
227 | M>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs752096103 CA2056409 |
228 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1163877651 CA350309829 |
229 | G>S | No |
ClinGen gnomAD |
|
|
rs374399278 CA63953684 |
229 | G>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs764627935 CA350309814 |
230 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs764627935 CA2056408 |
230 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 231 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1401709334 CA350309739 |
232 | S>F | No |
ClinGen gnomAD |
|
|
CA350309651 rs1173240185 |
235 | F>L | No |
ClinGen gnomAD |
|
|
CA2056407 rs763431945 |
237 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350309558 rs1450013677 |
238 | G>A | No |
ClinGen gnomAD |
|
|
rs1450013677 CA350309547 |
238 | G>V | No |
ClinGen gnomAD |
|
|
rs769694232 CA2056405 |
239 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769694232 CA63953671 |
239 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs924995120 CA63953656 |
240 | A>V | No |
ClinGen Ensembl |
|
|
rs759814109 CA350309483 |
241 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776665329 CA2056403 |
242 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1267663855 CA350309462 |
242 | W>R | No |
ClinGen gnomAD |
|
|
rs1356717954 CA350309320 |
245 | V>A | No |
ClinGen gnomAD |
|
|
CA350309326 rs1179617366 |
245 | V>F | No |
ClinGen TOPMed |
|
|
CA2056401 rs746840773 COSM719776 |
248 | Y>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs918207196 CA350309236 |
249 | V>F | No |
ClinGen TOPMed |
|
|
CA63953645 rs918207196 |
249 | V>I | No |
ClinGen TOPMed |
|
|
rs918207196 CA63953646 |
249 | V>L | No |
ClinGen TOPMed |
|
|
rs777686525 CA2056400 |
254 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs772192655 CA2056399 |
255 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1553660344 RCV000599502 |
258 | L>missing | No |
ClinVar dbSNP |
|
|
CA63953628 rs992818026 |
259 | S>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 260 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA63953613 rs17852688 |
261 | L>I | No |
ClinGen Ensembl |
|
|
rs754389194 CA2056396 |
263 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs753552611 CA2056395 |
264 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369062566 CA2056394 |
265 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA350308885 rs1430279610 |
265 | Y>C | No |
ClinGen gnomAD |
|
|
CA350308882 rs1430279610 |
265 | Y>F | No |
ClinGen gnomAD |
|
|
CA63953608 rs995662703 |
267 | T>N | No |
ClinGen Ensembl |
|
|
rs1574579942 CA350308839 |
267 | T>P | No |
ClinGen Ensembl |
|
|
CA2056391 rs200984991 |
269 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1489727362 CA350308756 |
270 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 274 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753142444 CA2056389 |
276 | L>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 280 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA63953575 rs1052990331 |
281 | A>T | No |
ClinGen TOPMed |
|
|
CA350308469 rs1194420339 |
283 | S>I | No |
ClinGen gnomAD |
|
|
CA350308465 rs759490227 |
284 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1015591586 CA63953569 |
284 | T>I | No |
ClinGen gnomAD |
|
|
CA2056386 rs759490227 |
284 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350308438 rs1343901400 |
285 | I>T | No |
ClinGen gnomAD |
|
|
rs1574579882 CA350308412 |
287 | A>T | No |
ClinGen Ensembl |
|
|
CA350308388 rs1282683026 |
287 | A>V | No |
ClinGen gnomAD |
|
|
rs1238602357 CA350307386 CA350307383 |
290 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1460306517 CA350307368 |
291 | I>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 292 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1209527419 CA350307319 |
293 | F>C | No |
ClinGen gnomAD |
|
|
CA2056363 rs763505591 |
296 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1482673861 CA350307266 |
296 | I>T | No |
ClinGen TOPMed |
|
|
CA2056361 rs768528861 |
297 | S>* | Joubert syndrome 14 (jbts14) [Ensembl] | No |
ClinGen ExAC |
|
rs768528861 CA2056360 |
297 | S>L | Joubert syndrome 14 (jbts14) [Ensembl] | No |
ClinGen ExAC |
|
CA2056362 rs761660963 |
297 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs749237675 CA2056359 |
299 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs774932736 CA2056358 |
300 | I>V | No |
ClinGen ExAC gnomAD |
|
|
COSM3425952 rs745540263 CA2056356 |
301 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2056355 rs780779375 |
302 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA63952851 rs780779375 |
302 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA350307109 rs1320990632 |
305 | A>D | No |
ClinGen gnomAD |
|
|
rs1432391516 CA350307083 |
307 | D>Y | No |
ClinGen gnomAD |
|
|
rs756868706 CA2056354 |
309 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350307033 rs1380123430 |
309 | T>I | No |
ClinGen TOPMed |
|
|
rs1157699544 CA350307020 |
310 | A>V | No |
ClinGen gnomAD |
|
|
CA63952827 rs887362631 |
311 | L>F | No |
ClinGen Ensembl |
|
|
rs776451247 CA63952821 |
312 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA63952386 rs1043186259 |
315 | L>S | No |
ClinGen gnomAD |
|
|
rs1043186259 CA63952380 |
315 | L>W | No |
ClinGen gnomAD |
|
|
CA2056338 rs770627441 |
317 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2056337 rs555422545 |
318 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA350306702 rs1275328211 |
319 | A>T | No |
ClinGen gnomAD |
|
|
rs1305623874 CA350306669 |
320 | L>P | No |
ClinGen gnomAD |
|
|
CA350306680 rs1206347135 |
320 | L>V | No |
ClinGen gnomAD |
|
|
CA350306655 rs1219388736 |
321 | I>T | No |
ClinGen gnomAD |
|
|
CA2056336 rs779148400 |
321 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749784503 CA2056334 |
329 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1057148787 CA63952355 |
329 | T>I | No |
ClinGen gnomAD |
|
|
rs1057148787 CA350306421 |
329 | T>R | No |
ClinGen gnomAD |
|
|
CA2056333 rs143081480 |
330 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2056332 rs756659130 |
332 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1353058030 CA350306273 |
334 | H>Y | No |
ClinGen gnomAD |
|
|
CA350306218 rs750583431 |
335 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2056331 rs750583431 |
335 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140821716 CA2056329 |
336 | Y>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA63952309 rs894051309 |
338 | P>T | No |
ClinGen TOPMed |
|
|
rs751740441 CA2056328 |
339 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA63952304 rs1052678049 |
339 | S>P | No |
ClinGen TOPMed |
|
|
rs1480186342 CA350306080 |
342 | N>S | No |
ClinGen gnomAD |
|
|
rs576982977 CA63952268 |
344 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350305989 rs1559584905 |
344 | S>R | No |
ClinGen Ensembl |
|
|
CA2056326 rs576982977 |
344 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1202574375 CA350304823 |
350 | I>T | No |
ClinGen gnomAD |
|
|
rs752545565 CA2056308 |
351 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2056307 rs765010894 |
353 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA350304697 rs1224994330 |
356 | Q>H | No |
ClinGen TOPMed |
|
|
rs1047227861 CA63951260 |
357 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs753716785 CA2056306 |
357 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350304647 rs1221734942 |
359 | I>F | No |
ClinGen TOPMed |
|
|
rs765897159 CA2056305 |
361 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756738471 CA63951237 |
362 | N>H | No |
ClinGen Ensembl |
|
|
rs1553659838 CA350304580 RCV000597448 |
362 | N>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA350304586 rs1489180369 |
362 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 363 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs138509553 CA2056303 CA350304553 |
364 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776066221 CA2056301 |
368 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs770221961 CA2056300 |
369 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA350304450 rs1164056116 |
370 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA350304462 rs1164056116 |
370 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs370795793 CA2056298 |
372 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1182786689 CA350304357 |
375 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs747158935 CA2056296 |
379 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1294288464 CA350304235 |
380 | P>L | No |
ClinGen TOPMed |
|
|
CA350304247 rs1202843628 |
380 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2056295 rs200863054 |
381 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA350304209 rs1437714395 |
382 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs758712743 CA2056294 |
383 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs748301153 CA2056293 |
384 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748301153 CA350304118 |
384 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350304112 rs1362249907 |
385 | S>N | No |
ClinGen gnomAD |
|
|
CA350303640 rs1322889552 |
387 | E>D | No |
ClinGen gnomAD |
|
|
CA350304050 rs1313323031 |
387 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA350303618 rs1410471494 |
388 | L>S | No |
ClinGen gnomAD |
|
|
CA350303591 rs1425289487 |
389 | M>I | No |
ClinGen gnomAD |
|
|
rs1295243652 CA350303574 |
390 | F>S | No |
ClinGen TOPMed |
|
|
rs1461138116 CA350303481 |
393 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs771987214 CA2056275 |
394 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 396 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1267560315 CA350303333 |
397 | Y>H | No |
ClinGen gnomAD |
|
|
CA63950056 rs1027885921 CA63950057 |
399 | D>E | No |
ClinGen TOPMed |
|
|
rs907547214 CA63950049 |
400 | K>Q | No |
ClinGen Ensembl |
|
|
rs1198704607 CA350303203 |
401 | E>G | No |
ClinGen gnomAD |
|
|
CA2056272 rs779067694 |
403 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
1 associated diseases with Q96Q45
[MIM: 614424]: Joubert syndrome 14 (JBTS14)
An autosomal recessive disorder characterized by severe intellectual disability, hypotonia, breathing abnormalities in infancy, and dysmorphic facial features. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include renal disease, abnormal eye movements, and postaxial polydactyly. {ECO:0000269|PubMed:22152675}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive disorder characterized by severe intellectual disability, hypotonia, breathing abnormalities in infancy, and dysmorphic facial features. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include renal disease, abnormal eye movements, and postaxial polydactyly. {ECO:0000269|PubMed:22152675}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q96Q45
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q96Q45 | |||
Functions
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| ciliary transition zone | A region of the cilium between the basal body and proximal segment that is characterized by Y-shaped assemblages that connect axonemal microtubules to the ciliary membrane. The ciliary transition zone appears to function as a gate that controls ciliary membrane composition and separates the cytosol from the ciliary plasm. |
| cone photoreceptor outer segment | The outer segment of a vertebrate cone photoreceptor that contains membrane discs that are contiguous with the ciliary membrane and containing opsin photoreceptor proteins. |
| 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. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| photoreceptor connecting cilium | The portion of the photoreceptor cell cilium linking the photoreceptor inner and outer segments. It's considered to be equivalent to the ciliary transition zone. |
| rod photoreceptor outer segment | The outer segment of a vertebrate rod photoreceptor that contains sealed membrane discs that are not connected to the ciliary membrane and containing rhodopsin photoreceptor proteins. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| cilium assembly | The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. |
| regulation of Wnt signaling pathway | Any process that modulates the frequency, rate or extent of the activity of the Wnt signal transduction pathway. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRTDSGARLE | EGHLRPPRAL | PPVPSQDDIP | LSRPKKKKPR | TKNTPASASL | EGLAQTAGRR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PSEGNEPSTK | ELKEHPEAPV | QRRQKKTRLP | LELETSSTQK | KSSSSSLLRN | ENGIDAEPAE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EAVIQKPRRK | TKKTQPAELQ | YANELGVEDE | DIITDEQTTV | EQQSVFTAPT | GISQPVGKVF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VEKSRRFQAA | DRSELIKTTE | NIDVSMDVKP | SWTTRDVALT | VHRAFRMIGL | FSHGFLAGCA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VWNIVVIYVL | AGDQLSNLSN | LLQQYKTLAY | PFQSLLYLLL | ALSTISAFDR | IDFAKISVAI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RNFLALDPTA | LASFLYFTAL | ILSLSQQMTS | DRIHLYTPSS | VNGSLWEAGI | EEQILQPWIV |
| 370 | 380 | 390 | 400 | ||
| VNLVVALLVG | LSWLFLSYRP | GMDLSEELMF | SSEVEEYPDK | EKEIKASS |