| Variant ID | 10131 |
|---|---|
| Entrez Gene ID | 56479 |
| Gene | KCNQ5 (GeneCards) |
| Location | hg19 6:73652413-73652413
hg38 6:72942690-72942690 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.73652413 C>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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0.00006463 |
|---|---|
| EIGEN score | -0.5095 |
| CADD Raw score (version 1.3) | -0.495616 (Deleterious) |
| FATHMM raw prediction score | 0.12005 (Tolerated) |
| Deleterious probability by DeFine | 0.4683 (Neutral) |
| Entrez Gene ID | 56479 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KCNQ5 (GeneCards) |
| Number of variants in KCNQ5 in this database | 7 (view all the variants) |
| Full name | potassium voltage-gated channel subfamily Q member 5 |
| Band | 6q13 |
| Other IDs | Vega: OTTHUMG00000015020 OMIM: 607357 HGNC: HGNC:6299 Ensembl: ENSG00000185760 |
| Other names | Kv7.5, MRD46 |
| Summary | This gene is a member of the KCNQ potassium channel gene family that is differentially expressed in subregions of the brain and in skeletal muscle. The protein encoded by this gene yields currents that activate slowly with depolarization and can form heteromeric channels with the protein encoded by the KCNQ3 gene. Currents expressed from this protein have voltage dependences and inhibitor sensitivities in common with M-currents. They are also inhibited by M1 muscarinic receptor activation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] |
| Individual ID | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female 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; |