| Variant ID | 27370 |
|---|---|
| Entrez Gene ID | 9743 |
| Gene | ARHGAP32 (GeneCards) |
| Location | hg19 11:129127185-129127185
hg38 11:129257290-129257290 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000011.9:g.129127185 A>G (Genome Assembly: GRCh37) |
| 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 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | -0.034782 (Deleterious) |
| FATHMM raw prediction score | 0.15754 (Tolerated) |
| Deleterious probability by DeFine | 0.402 (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 ID | 29217587.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |