| Variant ID | 29910 |
|---|---|
| Entrez Gene ID | 29919 |
| Gene | C18orf8 (GeneCards) |
| Location | hg19 18:21100180-21100180
hg38 18:23520216-23520216 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000018.9:g.21100180 C>A (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 | 78077248 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0762 |
| CADD Raw score (version 1.3) | 5.487344 (Deleterious) |
| FATHMM raw prediction score | 0.97667 (Tolerated) |
| SIFT score | 0.004 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.83 (Deleterious) |
| PROVEAN score | -5.69 (Deleterious) |
| MetaSVM score | -0.637 (Tolerated) |
| MetaLR score | 0.242 (Tolerated) |
| MCAP score | 0.04 (Deleterious) |
| FitCons score | 0.731 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 1.89 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.11 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 8.947 |
| Deleterious probability by iFish2 | 0.1291 (Neutral) |
| Deleterious probability by DeFine | 0.914 (Deleterious) |
| Entrez Gene ID | 29919 (NCBI Gene) |
|---|---|
| Official Gene Symbol | C18orf8 (GeneCards) |
| Number of variants in RMC1 in this database | 1 (view all the variants) |
| Full name | regulator of MON1-CCZ1 |
| Band | 18q11.2 |
| Other IDs | Vega: OTTHUMG00000179239 HGNC: HGNC:24326 Ensembl: ENSG00000141452 |
| Other names | MIC1, Mic-1, WDR98, C18orf8, HsT2591 |
| Summary | This gene encodes a colon cancer associated protein. [provided by RefSeq, Jan 2013] |
| Individual ID | 28867142.21 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male 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; |