| Variant ID | 14750 |
|---|---|
| Entrez Gene ID | 64072 |
| Gene | CDH23 (GeneCards) |
| Location | hg19 10:73383924-73383924
hg38 10:71624167-71624167 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.73383924 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 |
|---|---|
| EIGEN score | -0.0394 |
| CADD Raw score (version 1.3) | 0.103372 (Deleterious) |
| FATHMM raw prediction score | 0.12583 (Tolerated) |
| Deleterious probability by DeFine | 0.4887 (Neutral) |
| 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 | 29217584.18 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Male Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |