ADGRV1 Chromosome 5
Adhesion G protein-coupled receptor V1
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What This Gene Does
This gene encodes a member of the G-protein coupled receptor superfamily. The encoded protein contains a 7-transmembrane receptor domain, binds calcium and is expressed in the central nervous system. Mutations in this gene are associated with Usher syndrome 2 and familial febrile seizures. Several alternatively spliced transcripts have been described. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Adhesion G protein-coupled receptors, subfamily V|USH2 complex"
Locus Type
gene with protein product
Location
5q14.3
Ensembl
ENSG00000164199
Associated Conditions (34)
Usher syndrome type 2C
Usher syndrome
Inborn genetic diseases
ADGRV1-related disorder
Rare genetic deafness
Retinal dystrophy
Febrile seizures
familial
1
4
Monogenic hearing loss
Usher syndrome type 2
Intellectual disability
Optic atrophy
Retinitis pigmentosa
Idiopathic generalized epilepsy
Hearing impairment
Uterine corpus endometrial carcinoma
Meniere disease
See cases
+14 more conditions
Key Variants
RS1015832236
Conflicting classifications of pathogenicity
Health Risk
RS1026514423
Conflicting classifications of pathogenicity
Usher syndrome type 2C, Usher syndrome type 2C
Health Risk
RS1040245889
Conflicting classifications of pathogenicity
Health Risk
RS1050561499
Conflicting classifications of pathogenicity
Health Risk
RS1051488396
Conflicting classifications of pathogenicity
Usher syndrome type 2C, Usher syndrome type 2C
Health Risk
RS1053590019
Conflicting classifications of pathogenicity
Usher syndrome type 2C, Usher syndrome, Inborn genetic diseases
Health Risk
RS1060499795
Conflicting classifications of pathogenicity
Usher syndrome type 2C, Usher syndrome type 2C
Health Risk
RS111033484
Conflicting classifications of pathogenicity
Usher syndrome type 2C, Usher syndrome type 2C
Health Risk
RS111033517
Conflicting classifications of pathogenicity
Usher syndrome type 2C, ADGRV1-related disorder, Usher syndrome type 2C
Health Risk
RS1131691924
Conflicting classifications of pathogenicity
Rare genetic deafness, Retinal dystrophy, Rare genetic deafness
Health Risk
RS113498662
Conflicting classifications of pathogenicity
Usher syndrome type 2C, Inborn genetic diseases, ADGRV1-related disorder
Health Risk
RS113837859
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (1261)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2532013279 | Health Risk | Pathogenic | — |
| RS2532029941 | Health Risk | Pathogenic | — |
| RS2532032921 | Health Risk | Pathogenic | — |
| RS2532075098 | Health Risk | Pathogenic | — |
| RS2532084404 | Health Risk | Pathogenic | — |
| RS2532087304 | Health Risk | Pathogenic | — |
| RS2532088101 | Health Risk | Pathogenic | — |
| RS2532090185 | Health Risk | Pathogenic | — |
| RS2532092912 | Health Risk | Pathogenic | — |
| RS2532093823 | Health Risk | Pathogenic | — |
| RS2532113776 | Health Risk | Pathogenic | — |
| RS2532113899 | Health Risk | Pathogenic | — |
| RS2532115189 | Health Risk | Pathogenic | — |
| RS2532157652 | Health Risk | Pathogenic | — |
| RS2532184856 | Health Risk | Pathogenic | — |
| RS2532188512 | Health Risk | Pathogenic | — |
| RS2532189284 | Health Risk | Pathogenic | — |
| RS2532192085 | Health Risk | Pathogenic | — |
| RS2532192621 | Health Risk | Pathogenic | — |
| RS2532192952 | Health Risk | Pathogenic | — |
| RS2532193520 | Health Risk | Pathogenic | — |
| RS2532193953 | Health Risk | Pathogenic | — |
| RS2532226604 | Health Risk | Pathogenic | — |
| RS2532227148 | Health Risk | Pathogenic | — |
| RS2532311257 | Health Risk | Pathogenic | — |
| RS2532311493 | Health Risk | Pathogenic | — |
| RS2532350704 | Health Risk | Pathogenic | — |
| RS2532351713 | Health Risk | Pathogenic | — |
| RS2532352818 | Health Risk | Pathogenic | — |
| RS2532441399 | Health Risk | Pathogenic | — |
| RS2532502120 | Health Risk | Pathogenic | — |
| RS2532541414 | Health Risk | Pathogenic | — |
| RS2532541835 | Health Risk | Pathogenic | — |
| RS2532543260 | Health Risk | Pathogenic | — |
| RS2532562145 | Health Risk | Pathogenic | — |
| RS2532563501 | Health Risk | Pathogenic | — |
| RS2533410888 | Health Risk | Pathogenic | — |
| RS2533413737 | Health Risk | Pathogenic | — |
| RS267600727 | Health Risk | Pathogenic | Usher syndrome type 2, Usher syndrome type 2C, Usher syndrome type 2 |
| RS373780305 | Health Risk | Pathogenic | Rare genetic deafness, Usher syndrome type 2C, Febrile seizures |
| RS375310575 | Health Risk | Pathogenic | Usher syndrome type 2C, Usher syndrome type 2C |
| RS377650415 | Health Risk | Pathogenic | Usher syndrome type 2C, Usher syndrome type 2C |
| RS397517426 | Health Risk | Pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS397517429 | Health Risk | Pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS397517435 | Health Risk | Pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS397517436 | Health Risk | Pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS397517441 | Health Risk | Pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS527236131 | Health Risk | Pathogenic | Usher syndrome type 2C, Usher syndrome type 2C |
| RS527236133 | Health Risk | Pathogenic | Usher syndrome type 2C, Rare genetic deafness, Usher syndrome type 2C |
| RS727503076 | Health Risk | Pathogenic | Rare genetic deafness, Rare genetic deafness |