| Variant ID | 29701 |
|---|---|
| Entrez Gene ID | 339448 |
| Gene | C1orf174 (GeneCards) |
| Location | hg19 1:3806547-3806547
hg38 1:3889983-3889983 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000001.10:g.3806547 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 |
|---|---|
| Variant IDs in COSMIC (version 89) | 4007587 |
| Variant occurences in COSMIC | 1(stomach) |
| EIGEN score | 0.3241 |
| CADD Raw score (version 1.3) | 4.374681 (Deleterious) |
| FATHMM raw prediction score | 0.98227 (Tolerated) |
| SIFT score | 0.017 (Deleterious) |
| LRT score | 0.016 (Tolerated) |
| MutationTaster score | 0.999 (Deleterious) |
| MutatioinAssessor score | 1.525 (Tolerated) |
| PROVEAN score | -1.94 (Tolerated) |
| MetaSVM score | -0.981 (Tolerated) |
| MetaLR score | 0.147 (Tolerated) |
| MCAP score | 0.028 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.38 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.018 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.673 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 18.104 |
| Deleterious probability by iFish2 | 0.4511 (Neutral) |
| Deleterious probability by DeFine | 0.8918 (Deleterious) |
| Entrez Gene ID | 339448 (NCBI Gene) |
|---|---|
| Official Gene Symbol | C1orf174 (GeneCards) |
| Number of variants in C1orf174 in this database | 2 (view all the variants) |
| Full name | chromosome 1 open reading frame 174 |
| Band | 1p36.32 |
| Other IDs | Vega: OTTHUMG00000003739 HGNC: HGNC:27915 Ensembl: ENSG00000198912 |
| Other names | None |
| Summary | None |
| Individual ID | 28867142.04 (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; |