| Variant ID | 29700 |
|---|---|
| Entrez Gene ID | 85452 |
| Gene | CFAP74 (GeneCards) |
| Location | hg19 1:1900192-1900192
hg38 1:1968753-1968753 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000001.10:g.1900192 C>T (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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.7618 |
| CADD Raw score (version 1.3) | 0.16571 (Deleterious) |
| FATHMM raw prediction score | 0.11627 (Tolerated) |
| LRT score | 0.036 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 0.35 (Tolerated) |
| MetaSVM score | -0.937 (Tolerated) |
| MetaLR score | 0.132 (Tolerated) |
| FitCons score | 0.497 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -2.35 |
| PhyloP score based on multiple alignment of 100 vertebrates | -2.737 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 8.812 |
| Deleterious probability by iFish2 | 0.0173 (Neutral) |
| Deleterious probability by DeFine | 0.691 (Deleterious) |
| Entrez Gene ID | 85452 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CFAP74 (GeneCards) |
| Number of variants in CFAP74 in this database | 1 (view all the variants) |
| Full name | cilia and flagella associated protein 74 |
| Band | 1p36.33 |
| Other IDs | Vega: OTTHUMG00000000945 HGNC: HGNC:29368 Ensembl: ENSG00000142609 |
| Other names | C1orf222, KIAA1751 |
| Summary | None |
| Individual ID | 28867142.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Female 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; |