| Variant ID | 18397 |
|---|---|
| Entrez Gene ID | 394 |
| Gene | ARHGAP5 (GeneCards) |
| Location | hg19 14:32637770-32637770
hg38 14:32168564-32168564 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000014.8:g.32637770 C>T (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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2149 |
| CADD Raw score (version 1.3) | 0.039687 (Deleterious) |
| FATHMM raw prediction score | 0.08053 (Tolerated) |
| Deleterious probability by DeFine | 0.4564 (Neutral) |
| Entrez Gene ID | 394 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ARHGAP5 (GeneCards) |
| Number of variants in ARHGAP5 in this database | 4 (view all the variants) |
| Full name | Rho GTPase activating protein 5 |
| Band | 14q12 |
| Other IDs | Vega: OTTHUMG00000170589 OMIM: 602680 HGNC: HGNC:675 Ensembl: ENSG00000100852 |
| Other names | GFI2, p190-B, RhoGAP5, p190BRhoGAP |
| Summary | Rho GTPase activating protein 5 negatively regulates RHO GTPases, a family which may mediate cytoskeleton changes by stimulating the hydrolysis of bound GTP. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.12 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |