| Variant ID | 12678 |
|---|---|
| Entrez Gene ID | 9312 |
| Gene | KCNB2 (GeneCards) |
| Location | hg19 8:73636502-73636502
hg38 8:72724267-72724267 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.73636502 G>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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.3781 |
| CADD Raw score (version 1.3) | 2.290769 (Deleterious) |
| FATHMM raw prediction score | 0.96023 (Tolerated) |
| Deleterious probability by DeFine | 0.8138 (Deleterious) |
| Entrez Gene ID | 9312 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KCNB2 (GeneCards) |
| Number of variants in KCNB2 in this database | 5 (view all the variants) |
| Full name | potassium voltage-gated channel subfamily B member 2 |
| Band | 8q21.11 |
| Other IDs | Vega: OTTHUMG00000164498 OMIM: 607738 HGNC: HGNC:6232 Ensembl: ENSG00000182674 |
| Other names | KV2.2 |
| 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. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shab-related subfamily. This member is a delayed rectifier potassium channel. The gene is expressed in gastrointestinal smooth muscle cells. [provided by RefSeq, Jul 2008] |
| 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; |