Overview

Variant ID 11109
Entrez Gene ID 346562
Gene GNAT3 (GeneCards)
Location hg19 7:80227125-80227125
hg38 7:80597809-80597809
Disease Asymptomatic
Method HiSeq X Ten
Mutation(HGVS format) NC_000007.13:g.80227125 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 159138663

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score 0.0989
CADD Raw score (version 1.3) 0.267085 (Deleterious)
FATHMM raw prediction score 0.15881 (Tolerated)
Deleterious probability by DeFine 0.4826 (Neutral)
Entrez Gene ID 346562 (NCBI Gene)
Official Gene Symbol GNAT3 (GeneCards)
Number of variants in GNAT3 in this database 4 (view all the variants)
Full name G protein subunit alpha transducin 3
Band 7q21.11
Other IDs Vega: OTTHUMG00000155401
OMIM: 139395
HGNC: HGNC:22800
Ensembl: ENSG00000214415
Other names GDCA
Summary Sweet, bitter, and umami tastes are transmitted from taste receptors by a specific guanine nucleotide binding protein. The protein encoded by this gene is the alpha subunit of this heterotrimeric G protein, which is found not only in the oral epithelium but also in gut tissues. Variations in this gene have been linked to metabolic syndrome. [provided by RefSeq, Dec 2015]

Individual #1

Individual ID 29217584.13 (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;