| Variant ID | 7482 |
|---|---|
| Entrez Gene ID | 84059 |
| Gene | ADGRV1 (GeneCards) |
| Location | hg19 5:90001715-90001715
hg38 5:90705898-90705898 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.90001715 A>T (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0361 |
| CADD Raw score (version 1.3) | -0.276553 (Deleterious) |
| FATHMM raw prediction score | 0.19161 (Tolerated) |
| Deleterious probability by DeFine | 0.7919 (Deleterious) |
| Entrez Gene ID | 84059 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ADGRV1 (GeneCards) |
| Number of variants in ADGRV1 in this database | 6 (view all the variants) |
| Full name | adhesion G protein-coupled receptor V1 |
| Band | 5q14.3 |
| Other IDs | Vega: OTTHUMG00000162668 OMIM: 602851 HGNC: HGNC:17416 Ensembl: ENSG00000164199 |
| Other names | FEB4, GPR98, MASS1, USH2B, USH2C, VLGR1, VLGR1b |
| Summary | 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] |
| Individual ID | 29217584.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |