| Variant ID | 22006 |
|---|---|
| Entrez Gene ID | 9459 |
| Gene | ARHGEF6 (GeneCards) |
| Location | hg19 X:135836030-135836030
hg38 X:136753871-136753871 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000023.10:g.135836030 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 | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0.0001 |
|---|---|
| CADD Raw score (version 1.3) | 0.759181 (Deleterious) |
| FATHMM raw prediction score | 0.16961 (Tolerated) |
| Deleterious probability by DeFine | 0.5565 (Deleterious) |
| Entrez Gene ID | 9459 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ARHGEF6 (GeneCards) |
| Number of variants in ARHGEF6 in this database | 2 (view all the variants) |
| Full name | Rac/Cdc42 guanine nucleotide exchange factor 6 |
| Band | Xq26.3 |
| Other IDs | Vega: OTTHUMG00000022518 OMIM: 300267 HGNC: HGNC:685 Ensembl: ENSG00000129675 |
| Other names | PIXA, COOL2, MRX46, Cool-2, alphaPIX, alpha-PIX |
| Summary | Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It may form a complex with G proteins and stimulate Rho-dependent signals. This protein is activated by PI3-kinase. Mutations in this gene can cause X-chromosomal non-specific cognitive disability. [provided by RefSeq, Jul 2008] |
| 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; |