| Variant ID | 29486 |
|---|---|
| Entrez Gene ID | 284611 |
| Gene | FAM102B (GeneCards) |
| Location | hg19 1:109177766-109177766
hg38 1:108635144-108635144 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000001.10:g.109177766 A>G (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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.5751 |
| CADD Raw score (version 1.3) | 0.978668 (Deleterious) |
| FATHMM raw prediction score | 0.98172 (Tolerated) |
| Deleterious probability by DeFine | 0.8955 (Deleterious) |
| Entrez Gene ID | 284611 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FAM102B (GeneCards) |
| Number of variants in FAM102B in this database | 2 (view all the variants) |
| Full name | family with sequence similarity 102 member B |
| Band | 1p13.3 |
| Other IDs | Vega: OTTHUMG00000010967 HGNC: HGNC:27637 Ensembl: ENSG00000162636 |
| Other names | SYM-3B |
| Summary | None |
| Individual ID | 28714951.162 (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; |