| Variant ID | 29569 |
|---|---|
| Entrez Gene ID | 94134 |
| Gene | ARHGAP12 (GeneCards) |
| Location | hg19 10:32106768-32106768
hg38 10:31817840-31817840 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000010.10:g.32106768 T>C (Genome Assembly: hg19) |
| 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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.8196 |
| CADD Raw score (version 1.3) | 4.331619 (Deleterious) |
| FATHMM raw prediction score | 0.98717 (Tolerated) |
| SIFT score | 0.007 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.985 (Deleterious) |
| PROVEAN score | -4.86 (Deleterious) |
| MetaSVM score | 0.446 (Deleterious) |
| MetaLR score | 0.651 (Deleterious) |
| MCAP score | 0.147 (Deleterious) |
| FitCons score | 0.706 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.31 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.162 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.549 |
| Deleterious probability by iFish2 | 0.2253 (Neutral) |
| Deleterious probability by DeFine | 0.9665 (Deleterious) |
| Entrez Gene ID | 94134 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ARHGAP12 (GeneCards) |
| Number of variants in ARHGAP12 in this database | 3 (view all the variants) |
| Full name | Rho GTPase activating protein 12 |
| Band | 10p11.22 |
| Other IDs | Vega: OTTHUMG00000017911 OMIM: 610577 HGNC: HGNC:16348 Ensembl: ENSG00000165322 |
| Other names | None |
| Summary | This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein may be involved in suppressing tumor formation by regulating cell invasion and adhesion. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] |
| Individual ID | 28714951.245 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |