| Variant ID | 29169 |
|---|---|
| Entrez Gene ID | 140775 |
| Gene | SMCR8 (GeneCards) |
| Location | hg19 17:18220895-18220895
hg38 17:18317581-18317581 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000017.10:g.18220895 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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.9553 |
| CADD Raw score (version 1.3) | -1.912234 (Deleterious) |
| FATHMM raw prediction score | 0.26206 (Tolerated) |
| SIFT score | 0.542 (Tolerated) |
| LRT score | 0.673 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 0 (Tolerated) |
| PROVEAN score | 0.34 (Tolerated) |
| MetaSVM score | -1.014 (Tolerated) |
| MetaLR score | 0.053 (Tolerated) |
| MCAP score | 0.007 (Tolerated) |
| FitCons score | 0.722 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 2.41 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.093 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 5.182 |
| Deleterious probability by iFish2 | 0.0406 (Neutral) |
| Deleterious probability by DeFine | 0.8121 (Deleterious) |
| Entrez Gene ID | 140775 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SMCR8 (GeneCards) |
| Number of variants in SMCR8 in this database | 1 (view all the variants) |
| Full name | Smith-Magenis syndrome chromosome region, candidate 8 |
| Band | 17p11.2 |
| Other IDs | Vega: OTTHUMG00000059394 OMIM: 617074 HGNC: HGNC:17921 Ensembl: ENSG00000176994 |
| Other names | None |
| Summary | None |
| Individual ID | 28503910.46 (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; |