| Variant ID | 22342 |
|---|---|
| Entrez Gene ID | 1184 |
| Gene | CLCN5 (GeneCards) |
| Location | hg19 X:49862545-49862545
hg38 X:50097888-50097888 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000023.10:g.49862545 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 | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | 0.012562 (Deleterious) |
| FATHMM raw prediction score | 0.15671 (Tolerated) |
| Deleterious probability by DeFine | 0.4357 (Neutral) |
| Entrez Gene ID | 1184 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CLCN5 (GeneCards) |
| Number of variants in CLCN5 in this database | 2 (view all the variants) |
| Full name | chloride voltage-gated channel 5 |
| Band | Xp11.23 |
| Other IDs | Vega: OTTHUMG00000021514 OMIM: 300008 HGNC: HGNC:2023 Ensembl: ENSG00000171365 |
| Other names | XRN, CLC5, XLRH, CLCK2, ClC-5, DENTS, NPHL1, NPHL2, hCIC-K2 |
| Summary | This gene encodes a member of the ClC family of chloride ion channels and ion transporters. The encoded protein is primarily localized to endosomal membranes and may function to facilitate albumin uptake by the renal proximal tubule. Mutations in this gene have been found in Dent disease and renal tubular disorders complicated by nephrolithiasis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013] |
| Individual ID | 29217584.22 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |