| Variant ID | 29164 |
|---|---|
| Entrez Gene ID | 8603 |
| Gene | FAM193A (GeneCards) |
| Location | hg19 4:2661708-2661708
hg38 4:2659981-2659981 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000004.11:g.2661708 G>A (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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2022 |
| CADD Raw score (version 1.3) | 3.993764 (Deleterious) |
| FATHMM raw prediction score | 0.95148 (Tolerated) |
| SIFT score | 0.012 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 0.345 (Tolerated) |
| PROVEAN score | -1.41 (Tolerated) |
| MetaSVM score | -0.997 (Tolerated) |
| MetaLR score | 0.101 (Tolerated) |
| MCAP score | 0.022 (Tolerated) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.77 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.908 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.829 |
| Deleterious probability by iFish2 | 0.742 (Deleterious) |
| Deleterious probability by DeFine | 0.9695 (Deleterious) |
| Entrez Gene ID | 8603 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FAM193A (GeneCards) |
| Number of variants in FAM193A in this database | 1 (view all the variants) |
| Full name | family with sequence similarity 193 member A |
| Band | 4p16.3 |
| Other IDs | Vega: OTTHUMG00000160512 HGNC: HGNC:16822 Ensembl: ENSG00000125386 |
| Other names | C4orf8, RES4-22 |
| Summary | None |
| Individual ID | 28503910.41 (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; |