| Variant ID | 32252 |
|---|---|
| Entrez Gene ID | 27133 |
| Gene | KCNH5 (GeneCards) |
| Location | hg19 14:63447722-63447722
hg38 14:62981004-62981004 |
| Disease | Asymptomatic |
| Method | NGS gene panel |
| Mutation(HGVS format) | NC_000014.8:g.63447722 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 270 |
| Amino acid changes in protein | F > F |
| Position in cDNA | 810 |
| Changes in cDNA | C > T |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0.00006458 |
|---|---|
| Variant IDs in COSMIC (version 89) | 3356699 |
| Variant occurences in COSMIC | 1(haematopoietic_and_lymphoid_tissue)|3(skin)|2(large_intestine) |
| EIGEN score | 1.2348 |
| CADD Raw score (version 1.3) | 0.830741 (Deleterious) |
| FATHMM raw prediction score | 0.91136 (Tolerated) |
| Deleterious probability by DeFine | 0.8889 (Deleterious) |
| Entrez Gene ID | 27133 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KCNH5 (GeneCards) |
| Number of variants in KCNH5 in this database | 35 (view all the variants) |
| Full name | potassium voltage-gated channel subfamily H member 5 |
| Band | 14q23.2 |
| Other IDs | Vega: OTTHUMG00000029041 OMIM: 605716 HGNC: HGNC:6254 Ensembl: ENSG00000140015 |
| Other names | EAG2, hEAG2, H-EAG2, Kv10.2 |
| Summary | This gene encodes a member of voltage-gated potassium channels. Members of this family have diverse functions, including regulating neurotransmitter and hormone release, cardiac function, and cell volume. This protein is an outward-rectifying, noninactivating channel. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] |
| Individual ID | 25999502.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 25999502 |
| Whose mosaic mutation | Normal |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 25999502 |
|---|---|
| Title | High burden and pervasive positive selection of somatic mutations in normal human skin |
| Journal | Science |
| Publication date | 2015.05 |
| Disease | Asymptomatic |
| Number of cases | Male cases: 1; Female cases: 3; |