| Variant ID | 29294 |
|---|---|
| Entrez Gene ID | 138724 |
| Gene | C9orf131 (GeneCards) |
| Location | hg19 9:35042438-35042438
hg38 9:35042441-35042441 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000009.11:g.35042438 C>T (Genome Assembly: GRCh37) |
| 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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs144687989 |
| Variant IDs in COSMIC (version 89) | 1132500 |
| Variant occurences in COSMIC | 1(prostate) |
| EIGEN score | 0.438 |
| CADD Raw score (version 1.3) | 7.143938 (Deleterious) |
| FATHMM raw prediction score | 0.62204 (Tolerated) |
| LRT score | 0.824 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.421 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.87 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.786 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.988 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 10.52 |
| Deleterious probability by DeFine | 0.91 (Deleterious) |
| Entrez Gene ID | 138724 (NCBI Gene) |
|---|---|
| Official Gene Symbol | C9orf131 (GeneCards) |
| Number of variants in C9orf131 in this database | 2 (view all the variants) |
| Full name | chromosome 9 open reading frame 131 |
| Band | 9p13.3 |
| Other IDs | Vega: OTTHUMG00000019853 HGNC: HGNC:31418 Ensembl: ENSG00000174038 |
| Other names | None |
| Summary | None |
| Individual ID | 28503910.171 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Normal |
| Phenotype | 2 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |