Overview

Variant ID 8145
Entrez Gene ID 2559
Gene GABRA6 (GeneCards)
Location hg19 5:161244756-161244756
hg38 5:161817750-161817750
Disease Asymptomatic
Method HiSeq X Ten
Mutation(HGVS format) NC_000005.9:g.161244756 T>C (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 180915260

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score 0.1881
CADD Raw score (version 1.3) 1.112968 (Deleterious)
FATHMM raw prediction score 0.25645 (Tolerated)
Deleterious probability by DeFine 0.4653 (Neutral)
Entrez Gene ID 2559 (NCBI Gene)
Official Gene Symbol GABRA6 (GeneCards)
Number of variants in GABRA6 in this database 6 (view all the variants)
Full name gamma-aminobutyric acid type A receptor alpha6 subunit
Band 5q34
Other IDs Vega: OTTHUMG00000130351
OMIM: 137143
HGNC: HGNC:4080
Ensembl: ENSG00000145863
Other names None
Summary GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. [provided by RefSeq, Jul 2008]

Individual #1

Individual ID 29217584.11 (view all the variants in this individual)
Pubmed ID 29217584
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID

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;