| Variant ID | 29757 |
|---|---|
| Entrez Gene ID | 27146 |
| Gene | FAM184B (GeneCards) |
| Location | hg19 4:17706804-17706804
hg38 4:17705181-17705181 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000004.11:g.17706804 G>A (Genome Assembly: hg19) |
| 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 | -0.9273 |
| CADD Raw score (version 1.3) | 1.068152 (Deleterious) |
| FATHMM raw prediction score | 0.02954 (Tolerated) |
| SIFT score | 0.067 (Tolerated) |
| LRT score | 0.291 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 1.7 (Tolerated) |
| PROVEAN score | -1.45 (Tolerated) |
| MetaSVM score | -1.049 (Tolerated) |
| MetaLR score | 0.034 (Tolerated) |
| MCAP score | 0.004 (Tolerated) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -2.67 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.499 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 1.031 |
| Deleterious probability by iFish2 | 0.0207 (Neutral) |
| Deleterious probability by DeFine | 0.5112 (Deleterious) |
| Entrez Gene ID | 27146 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FAM184B (GeneCards) |
| Number of variants in FAM184B in this database | 1 (view all the variants) |
| Full name | family with sequence similarity 184 member B |
| Band | 4p15.32-p15.31 |
| Other IDs | Vega: OTTHUMG00000160287 HGNC: HGNC:29235 Ensembl: ENSG00000047662 |
| Other names | None |
| Summary | None |
| Individual ID | 28867142.32 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male 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 | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |