Variant ID | 4366 |
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Entrez Gene ID | 3790 |
Gene | KCNS3 (GeneCards) |
Location | hg19 2:18724772-18724772
hg38 2:18543506-18543506 |
Disease | Cockayne syndrome (view all the variants in this disease) |
Method | HiSeq X Ten |
Mutation(HGVS format) | NC_000002.11:g.18724772 C>T (Genome Assembly: GRCh37) |
Exon or Intron | NA |
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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 | 243199373 |
MAF in gnomAD genome (version 2.0.1) | 0 |
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EIGEN score | 0.1023 |
CADD Raw score (version 1.3) | 0.040087 (Deleterious) |
FATHMM raw prediction score | 0.07044 (Tolerated) |
Deleterious probability by DeFine | 0.5384 (Deleterious) |
Entrez Gene ID | 3790 (NCBI Gene) |
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Official Gene Symbol | KCNS3 (GeneCards) |
Number of variants in KCNS3 in this database | 9 (view all the variants) |
Full name | potassium voltage-gated channel modifier subfamily S member 3 |
Band | 2p24.2 |
Other IDs | Vega: OTTHUMG00000044150 OMIM: 603888 HGNC: HGNC:6302 Ensembl: ENSG00000170745 |
Other names | KV9.3 |
Summary | Voltage-gated potassium channels form the largest and most diversified class of ion channels and are present in both excitable and nonexcitable cells. Their main functions are associated with the regulation of the resting membrane potential and the control of the shape and frequency of action potentials. The alpha subunits are of 2 types: those that are functional by themselves and those that are electrically silent but capable of modulating the activity of specific functional alpha subunits. The protein encoded by this gene is not functional by itself but can form heteromultimers with member 1 and with member 2 (and possibly other members) of the Shab-related subfamily of potassium voltage-gated channel proteins. This gene belongs to the S subfamily of the potassium channel family. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2013] |
Individual ID | 29217584.19 (view all the variants in this individual) |
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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 |
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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; |