| Variant ID | 29943 |
|---|---|
| Entrez Gene ID | 1184 |
| Gene | CLCN5 (GeneCards) |
| Location | hg19 X:49834668-49834668
hg38 X:50070013-50070013 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000023.10:g.49834668 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| 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 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs200225080 |
| Variant IDs in COSMIC (version 89) | 5498457 |
| Variant occurences in COSMIC | 1(biliary_tract) |
| CADD Raw score (version 1.3) | 7.144272 (Deleterious) |
| FATHMM raw prediction score | 0.88859 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.88 (Deleterious) |
| PROVEAN score | -6.64 (Deleterious) |
| MetaSVM score | 0.861 (Deleterious) |
| MetaLR score | 0.875 (Deleterious) |
| MCAP score | 0.554 (Deleterious) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.67 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.109 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.993 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 11.938 |
| Deleterious probability by iFish2 | 0.831 (Deleterious) |
| Deleterious probability by DeFine | 0.8837 (Deleterious) |
| 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 | 28867142.25 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |