| Variant ID | 29619 |
|---|---|
| Entrez Gene ID | 3441 |
| Gene | IFNA4 (GeneCards) |
| Location | hg19 9:21187406-21187406
hg38 9:21187407-21187407 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000009.11:g.21187406 G>C (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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003234 |
|---|---|
| Variant IDs in COSMIC (version 89) | 4373356 |
| Variant occurences in COSMIC | 1(liver)|1(lung) |
| EIGEN score | -1.0767 |
| CADD Raw score (version 1.3) | -0.308564 (Deleterious) |
| FATHMM raw prediction score | 0.00331 (Tolerated) |
| SIFT score | 0.759 (Tolerated) |
| LRT score | 0.489 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 0.68 (Tolerated) |
| PROVEAN score | 0.38 (Tolerated) |
| MetaSVM score | -0.903 (Tolerated) |
| MetaLR score | 0.009 (Tolerated) |
| MCAP score | 0.005 (Tolerated) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -0.327 |
| PhyloP score based on multiple alignment of 100 vertebrates | -2.435 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 7.481 |
| Deleterious probability by iFish2 | 0.012 (Neutral) |
| Deleterious probability by DeFine | 0.6075 (Deleterious) |
| Entrez Gene ID | 3441 (NCBI Gene) |
|---|---|
| Official Gene Symbol | IFNA4 (GeneCards) |
| Number of variants in IFNA4 in this database | 1 (view all the variants) |
| Full name | interferon alpha 4 |
| Band | 9p21.3 |
| Other IDs | Vega: OTTHUMG00000019660 OMIM: 147564 HGNC: HGNC:5425 Ensembl: ENSG00000236637 |
| Other names | INFA4, IFN-alpha4a |
| Summary | None |
| Individual ID | 28714951.295 (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; |