| Variant ID | 1739 |
|---|---|
| Entrez Gene ID | 128272 |
| Gene | ARHGEF19 (GeneCards) |
| Location | hg19 1:16556787-16556787
hg38 1:16230292-16230292 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.16556787 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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0899 |
| CADD Raw score (version 1.3) | 0.003579 (Deleterious) |
| FATHMM raw prediction score | 0.09672 (Tolerated) |
| Deleterious probability by DeFine | 0.7646 (Deleterious) |
| Entrez Gene ID | 128272 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ARHGEF19 (GeneCards) |
| Number of variants in ARHGEF19 in this database | 2 (view all the variants) |
| Full name | Rho guanine nucleotide exchange factor 19 |
| Band | 1p36.13 |
| Other IDs | Vega: OTTHUMG00000002219 OMIM: 612496 HGNC: HGNC:26604 Ensembl: ENSG00000142632 |
| Other names | WGEF |
| Summary | Guanine nucleotide exchange factors (GEFs) such as ARHGEF19 accelerate the GTPase activity of Rho GTPases (see RHOA, MIM 165390).[supplied by OMIM, Dec 2008] |
| Individual ID | 29217584.04 (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; |