| Variant ID | 29631 |
|---|---|
| Entrez Gene ID | 7399 |
| Gene | USH2A (GeneCards) |
| Location | hg19 1:216062348-216062348
hg38 1:215889006-215889006 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000001.10:g.216062348 A>C (Genome Assembly: hg19) |
| 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 |
|---|---|
| EIGEN score | -1.1073 |
| CADD Raw score (version 1.3) | 0.4439 (Deleterious) |
| FATHMM raw prediction score | 0.05065 (Tolerated) |
| SIFT score | 0.094 (Tolerated) |
| LRT score | 0.326 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 1.71 (Tolerated) |
| PROVEAN score | -1.04 (Tolerated) |
| MetaSVM score | -1.028 (Tolerated) |
| MetaLR score | 0.091 (Tolerated) |
| MCAP score | 0.096 (Deleterious) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -8.18 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.447 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 10.482 |
| Deleterious probability by iFish2 | 0.1924 (Neutral) |
| Deleterious probability by DeFine | 0.7649 (Deleterious) |
| 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 | 28714951.307 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |