| Variant ID | 30960 |
|---|---|
| Entrez Gene ID | 27133 |
| Gene | KCNH5 (GeneCards) |
| Location | hg19 14:63174801-63174801
hg38 14:62708083-62708083 |
| Disease | Asymptomatic |
| Method | NGS gene panel |
| Mutation(HGVS format) | NC_000014.8:g.63174801 T>G (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 798 |
| Amino acid changes in protein | N > H |
| Position in cDNA | 2392 |
| Changes in cDNA | A > C |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1082 |
| CADD Raw score (version 1.3) | 1.337433 (Deleterious) |
| FATHMM raw prediction score | 0.92803 (Tolerated) |
| SIFT score | 0.152 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 0.55 (Tolerated) |
| PROVEAN score | -0.93 (Tolerated) |
| MetaSVM score | 0.826 (Deleterious) |
| MetaLR score | 0.864 (Deleterious) |
| MCAP score | 0.097 (Deleterious) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.7 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.278 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 11.321 |
| Deleterious probability by iFish2 | 0.3229 (Neutral) |
| Deleterious probability by DeFine | 0.9387 (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 | 25999502.01 (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; |