| Variant ID | 29834 |
|---|---|
| Entrez Gene ID | 84986 |
| Gene | ARHGAP19 (GeneCards) |
| Location | hg19 10:99024633-99024633
hg38 10:97264876-97264876 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000010.10:g.99024633 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| 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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 5262159 |
| Variant occurences in COSMIC | 1(lung)|1(large_intestine) |
| EIGEN score | 0.8719 |
| CADD Raw score (version 1.3) | 6.710433 (Deleterious) |
| FATHMM raw prediction score | 0.9916 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0 |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.405 (Deleterious) |
| PROVEAN score | -4.1 (Deleterious) |
| MetaSVM score | -0.611 (Tolerated) |
| MetaLR score | 0.262 (Tolerated) |
| MCAP score | 0.029 (Deleterious) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.69 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.493 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.798 |
| Deleterious probability by iFish2 | 0.5524 (Deleterious) |
| Deleterious probability by DeFine | 0.9458 (Deleterious) |
| Entrez Gene ID | 84986 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ARHGAP19 (GeneCards) |
| Number of variants in ARHGAP19 in this database | 2 (view all the variants) |
| Full name | Rho GTPase activating protein 19 |
| Band | 10q24.1 |
| Other IDs | Vega: OTTHUMG00000018845 OMIM: 611587 HGNC: HGNC:23724 Ensembl: ENSG00000213390 |
| Other names | None |
| Summary | Members of the ARHGAP family, such as ARHGAP19, encode negative regulators of Rho GTPases (see RHOA; MIM 165390), which are involved in cell migration, proliferation, and differentiation, actin remodeling, and G1 cell cycle progression (Lv et al., 2007 [PubMed 17454002]).[supplied by OMIM, Mar 2008] |
| Individual ID | 28867142.98 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |