| Variant ID | 1637 |
|---|---|
| Entrez Gene ID | 7399 |
| Gene | USH2A (GeneCards) |
| Location | hg19 1:216026475-216026475
hg38 1:215853133-215853133 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.216026475 C>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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0.0019 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs145021949 |
| EIGEN score | -0.2968 |
| CADD Raw score (version 1.3) | 0.10084 (Deleterious) |
| FATHMM raw prediction score | 0.25571 (Tolerated) |
| Deleterious probability by DeFine | 0.1229 (Neutral) |
| Entrez Gene ID | 7399 (NCBI Gene) |
|---|---|
| Official Gene Symbol | USH2A (GeneCards) |
| Number of variants in USH2A in this database | 8 (view all the variants) |
| Full name | usherin |
| Band | 1q41 |
| Other IDs | Vega: OTTHUMG00000037079 OMIM: 608400 HGNC: HGNC:12601 Ensembl: ENSG00000042781 |
| Other names | US2, RP39, USH2, dJ1111A8.1 |
| Summary | This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] |
| Individual ID | 29217584.02 (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; |