| Variant ID | 20090 |
|---|---|
| Entrez Gene ID | 9912 |
| Gene | ARHGAP44 (GeneCards) |
| Location | hg19 17:12742878-12742878
hg38 17:12839561-12839561 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000017.10:g.12742878 C>G (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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.7228 |
| CADD Raw score (version 1.3) | 2.333113 (Deleterious) |
| FATHMM raw prediction score | 0.94217 (Tolerated) |
| Deleterious probability by DeFine | 0.2595 (Neutral) |
| Entrez Gene ID | 9912 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ARHGAP44 (GeneCards) |
| Number of variants in ARHGAP44 in this database | 5 (view all the variants) |
| Full name | Rho GTPase activating protein 44 |
| Band | 17p12 |
| Other IDs | Vega: OTTHUMG00000058765 OMIM: 617716 HGNC: HGNC:29096 Ensembl: ENSG00000006740 |
| Other names | RICH2, NPC-A-10 |
| Summary | None |
| Individual ID | 29217584.15 (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; |