Overview

Variant ID 15804
Entrez Gene ID 9743
Gene ARHGAP32 (GeneCards)
Location hg19 11:129178183-129178183
hg38 11:129308288-129308288
Disease Cockayne syndrome (view all the variants in this disease)
Method HiSeq X Ten
Mutation(HGVS format) NC_000011.9:g.129178183 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 135006516

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
CADD Raw score (version 1.3) 0.080121 (Deleterious)
FATHMM raw prediction score 0.14372 (Tolerated)
Deleterious probability by DeFine 0.4724 (Neutral)
Entrez Gene ID 9743 (NCBI Gene)
Official Gene Symbol ARHGAP32 (GeneCards)
Number of variants in ARHGAP32 in this database 4 (view all the variants)
Full name Rho GTPase activating protein 32
Band 11q24.3
Other IDs Vega: OTTHUMG00000165774
OMIM: 608541
HGNC: HGNC:17399
Ensembl: ENSG00000134909
Other names GRIT, RICS, GC-GAP, PX-RICS, p250GAP, p200RhoGAP
Summary RICS is a neuron-associated GTPase-activating protein that may regulate dendritic spine morphology and strength by modulating Rho GTPase (see RHOA; MIM 165390) activity (Okabe et al., 2003 [PubMed 12531901]).[supplied by OMIM, Mar 2008]

Individual #1

Individual ID 29217584.16 (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;