| Variant ID | 14347 |
|---|---|
| Entrez Gene ID | 64072 |
| Gene | CDH23 (GeneCards) |
| Location | hg19 10:73326620-73326620
hg38 10:71566863-71566863 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.73326620 G>A (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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0.0003 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs201132251 |
| EIGEN score | -0.4941 |
| CADD Raw score (version 1.3) | 2.23224 (Deleterious) |
| FATHMM raw prediction score | 0.96273 (Tolerated) |
| SIFT score | 0.032 (Deleterious) |
| LRT score | 0 (Tolerated) |
| MutationTaster score | 0.97 (Deleterious) |
| MutatioinAssessor score | 0.425 (Tolerated) |
| PROVEAN score | -1.94 (Tolerated) |
| MetaSVM score | -0.772 (Tolerated) |
| MetaLR score | 0.012 (Tolerated) |
| MCAP score | 0.029 (Deleterious) |
| FitCons score | 0.615 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.53 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.566 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.037 |
| Deleterious probability by iFish2 | 0.7904 (Deleterious) |
| Deleterious probability by DeFine | 0.9658 (Deleterious) |
| Entrez Gene ID | 64072 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CDH23 (GeneCards) |
| Number of variants in CDH23 in this database | 4 (view all the variants) |
| Full name | cadherin related 23 |
| Band | 10q22.1 |
| Other IDs | Vega: OTTHUMG00000019347 OMIM: 605516 HGNC: HGNC:13733 Ensembl: ENSG00000107736 |
| Other names | PITA5, USH1D, CDHR23 |
| Summary | This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this cadherin-like gene. Upregulation of this gene may also be associated with breast cancer. Alternative splice variants encoding different isoforms have been described. [provided by RefSeq, May 2013] |
| Individual ID | 29217584.11 (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; |