| Variant ID | 29119 |
|---|---|
| Entrez Gene ID | 157769 |
| Gene | FAM91A1 (GeneCards) |
| Location | hg19 8:124787443-124787443
hg38 8:123775203-123775203 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | HiSeq Pyrosequencing |
| Mutation(HGVS format) | NC_000008.10:g.124787443 C>T (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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 4761010 |
| Variant occurences in COSMIC | 1(stomach) |
| EIGEN score | 0.7692 |
| CADD Raw score (version 1.3) | 11.727871 (Deleterious) |
| FATHMM raw prediction score | 0.984 (Tolerated) |
| LRT score | 0 |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.33 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.026 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 12.686 |
| Deleterious probability by DeFine | 0.9173 (Deleterious) |
| Entrez Gene ID | 157769 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FAM91A1 (GeneCards) |
| Number of variants in FAM91A1 in this database | 1 (view all the variants) |
| Full name | family with sequence similarity 91 member A1 |
| Band | 8q24.13 |
| Other IDs | Vega: OTTHUMG00000133021 HGNC: HGNC:26306 Ensembl: ENSG00000176853 |
| Other names | None |
| Summary | None |
| Individual ID | 27632392.12 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27632392 |
| Whose mosaic mutation | 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 | 27632392 |
|---|---|
| Title | The Contribution of Mosaic Variants to Autism Spectrum Disorder |
| Journal | PLoS Genetics |
| Publication date | 2016.09 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 16; |