| Variant ID | 29633 |
|---|---|
| Entrez Gene ID | 118461 |
| Gene | C10orf71 (GeneCards) |
| Location | hg19 10:50534797-50534797
hg38 10:49326752-49326752 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000010.10:g.50534797 G>A (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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 3665755 |
| Variant occurences in COSMIC | 2(liver) |
| EIGEN score | -0.7886 |
| CADD Raw score (version 1.3) | 0.412003 (Deleterious) |
| FATHMM raw prediction score | 0.15656 (Tolerated) |
| SIFT score | 0.27 (Tolerated) |
| LRT score | 0.893 |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 0.805 (Tolerated) |
| PROVEAN score | -0.7 (Tolerated) |
| MetaSVM score | -0.911 (Tolerated) |
| MetaLR score | 0.016 (Tolerated) |
| MCAP score | 0.027 (Deleterious) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 2.2 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.301 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.002 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 7.352 |
| Deleterious probability by iFish2 | 0.2199 (Neutral) |
| Deleterious probability by DeFine | 0.9252 (Deleterious) |
| Entrez Gene ID | 118461 (NCBI Gene) |
|---|---|
| Official Gene Symbol | C10orf71 (GeneCards) |
| Number of variants in C10orf71 in this database | 2 (view all the variants) |
| Full name | chromosome 10 open reading frame 71 |
| Band | 10q11.23 |
| Other IDs | Vega: OTTHUMG00000018190 HGNC: HGNC:26973 Ensembl: ENSG00000177354 |
| Other names | CEFIP |
| Summary | None |
| Individual ID | 28714951.309 (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; |