Overview

Variant ID 4366
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)

Other information

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 243199373

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
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)
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 #1

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

Publication #1: 29217584

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;