| Variant ID | 29317 |
|---|---|
| Entrez Gene ID | 128272 |
| Gene | ARHGEF19 (GeneCards) |
| Location | hg19 1:16525147-16525147
hg38 1:16198652-16198652 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000001.10:g.16525147 G>C (Genome Assembly: GRCh37) |
| 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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.5826 |
| CADD Raw score (version 1.3) | 7.28316 (Deleterious) |
| FATHMM raw prediction score | 0.98884 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.175 (Deleterious) |
| PROVEAN score | -5.23 (Deleterious) |
| MetaSVM score | -0.352 (Tolerated) |
| MetaLR score | 0.381 (Tolerated) |
| MCAP score | 0.116 (Deleterious) |
| FitCons score | 0.672 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.37 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.953 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.598 |
| Deleterious probability by iFish2 | 0.9777 (Deleterious) |
| Deleterious probability by DeFine | 0.9799 (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 | 28503910.194 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |