| Variant ID | 16003 |
|---|---|
| Entrez Gene ID | 57569 |
| Gene | ARHGAP20 (GeneCards) |
| Location | hg19 11:110770434-110770434
hg38 11:110899710-110899710 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000011.9:g.110770434 C>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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | -0.259746 (Deleterious) |
| FATHMM raw prediction score | 0.11547 (Tolerated) |
| Deleterious probability by DeFine | 0.6441 (Deleterious) |
| Entrez Gene ID | 57569 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ARHGAP20 (GeneCards) |
| Number of variants in ARHGAP20 in this database | 7 (view all the variants) |
| Full name | Rho GTPase activating protein 20 |
| Band | 11q22.3-q23.1 |
| Other IDs | Vega: OTTHUMG00000166590 OMIM: 609568 HGNC: HGNC:18357 Ensembl: ENSG00000137727 |
| Other names | RARHOGAP |
| Summary | The protein encoded by this gene is an activator of RHO-type GTPases, transducing a signal from RAP1 to RHO and impacting neurite outgrowth. [provided by RefSeq, Sep 2016] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |