| Variant ID | 29621 |
|---|---|
| Entrez Gene ID | 282966 |
| Gene | C10orf53 (GeneCards) |
| Location | hg19 10:50887799-50887799
hg38 10:49679753-49679753 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000010.10:g.50887799 T>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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.3412 |
| CADD Raw score (version 1.3) | 4.687506 (Deleterious) |
| FATHMM raw prediction score | 0.77299 (Tolerated) |
| SIFT score | 0.003 (Deleterious) |
| LRT score | 0.086 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| PROVEAN score | -4.84 (Deleterious) |
| MetaSVM score | -0.137 (Tolerated) |
| MetaLR score | 0.35 (Tolerated) |
| MCAP score | 0.057 (Deleterious) |
| FitCons score | 0.437 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.18 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.532 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.995 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 11.732 |
| Deleterious probability by iFish2 | 0.5915 (Deleterious) |
| Deleterious probability by DeFine | 0.9777 (Deleterious) |
| Entrez Gene ID | 282966 (NCBI Gene) |
|---|---|
| Official Gene Symbol | C10orf53 (GeneCards) |
| Number of variants in C10orf53 in this database | 2 (view all the variants) |
| Full name | chromosome 10 open reading frame 53 |
| Band | 10q11.23 |
| Other IDs | Vega: OTTHUMG00000018199 HGNC: HGNC:27421 Ensembl: ENSG00000178645 |
| Other names | None |
| Summary | None |
| Individual ID | 28714951.297 (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; |