| Variant ID | 2786 |
|---|---|
| Entrez Gene ID | 3756 |
| Gene | KCNH1 (GeneCards) |
| Location | hg19 1:211412637-211412637
hg38 1:211239295-211239295 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.211412637 C>G (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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2049 |
| CADD Raw score (version 1.3) | -0.014561 (Deleterious) |
| FATHMM raw prediction score | 0.07632 (Tolerated) |
| Deleterious probability by DeFine | 0.4194 (Neutral) |
| Entrez Gene ID | 3756 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KCNH1 (GeneCards) |
| Number of variants in KCNH1 in this database | 6 (view all the variants) |
| Full name | potassium voltage-gated channel subfamily H member 1 |
| Band | 1q32.2 |
| Other IDs | Vega: OTTHUMG00000036309 OMIM: 603305 HGNC: HGNC:6250 Ensembl: ENSG00000143473 |
| Other names | EAG, EAG1, ZLS1, TMBTS, h-eag, hEAG1, Kv10.1 |
| Summary | Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit of a voltage-gated non-inactivating delayed rectifier potassium channel. It is activated at the onset of myoblast differentiation. The gene is highly expressed in brain and in myoblasts. Overexpression of the gene may confer a growth advantage to cancer cells and favor tumor cell proliferation. Alternative splicing of this gene results in two transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] |
| 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; |