| Variant ID | 7544 |
|---|---|
| Entrez Gene ID | 23092 |
| Gene | ARHGAP26 (GeneCards) |
| Location | hg19 5:142629335-142629335
hg38 5:143249770-143249770 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.142629335 G>A (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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1821 |
| CADD Raw score (version 1.3) | 0.16167 (Deleterious) |
| FATHMM raw prediction score | 0.20105 (Tolerated) |
| Deleterious probability by DeFine | 0.4892 (Neutral) |
| Entrez Gene ID | 23092 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ARHGAP26 (GeneCards) |
| Number of variants in ARHGAP26 in this database | 3 (view all the variants) |
| Full name | Rho GTPase activating protein 26 |
| Band | 5q31.3 |
| Other IDs | Vega: OTTHUMG00000059705 OMIM: 605370 HGNC: HGNC:17073 Ensembl: ENSG00000145819 |
| Other names | GRAF, GRAF1, OPHN1L, OPHN1L1 |
| Summary | Interaction of a cell with the extracellular matrix triggers integrin cell surface receptors to begin signaling cascades that regulate the organization of the actin-cytoskeleton. One of the proteins involved in these cascades is focal adhesion kinase. The protein encoded by this gene is a GTPase activating protein that binds to focal adhesion kinase and mediates the activity of the GTP binding proteins RhoA and Cdc42. Defects in this gene are a cause of juvenile myelomonocytic leukemia (JMML). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2017] |
| Individual ID | 29217584.03 (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; |