Overview

Variant ID 14679
Entrez Gene ID 94134
Gene ARHGAP12 (GeneCards)
Location hg19 10:32142966-32142966
hg38 10:31854038-31854038
Disease Asymptomatic
Method HiSeq X Ten
Mutation(HGVS format) NC_000010.10:g.32142966 A>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 135534747

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score 0.4252
CADD Raw score (version 1.3) 0.01732 (Deleterious)
FATHMM raw prediction score 0.24717 (Tolerated)
Deleterious probability by DeFine 0.6627 (Deleterious)
Entrez Gene ID 94134 (NCBI Gene)
Official Gene Symbol ARHGAP12 (GeneCards)
Number of variants in ARHGAP12 in this database 3 (view all the variants)
Full name Rho GTPase activating protein 12
Band 10p11.22
Other IDs Vega: OTTHUMG00000017911
OMIM: 610577
HGNC: HGNC:16348
Ensembl: ENSG00000165322
Other names None
Summary This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein may be involved in suppressing tumor formation by regulating cell invasion and adhesion. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

Individual #1

Individual ID 29217584.15 (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;