| Variant ID | 29679 |
|---|---|
| Entrez Gene ID | 222183 |
| Gene | SRRM3 (GeneCards) |
| Location | hg19 7:75894688-75894688
hg38 7:76265370-76265370 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000007.13:g.75894688 C>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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0.00006464 |
|---|---|
| EIGEN score | -0.4344 |
| CADD Raw score (version 1.3) | 1.349348 (Deleterious) |
| FATHMM raw prediction score | 0.23228 (Tolerated) |
| LRT score | 0.117 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 1.39 (Tolerated) |
| MetaSVM score | -0.929 (Tolerated) |
| MetaLR score | 0.009 (Tolerated) |
| MCAP score | 0.012 (Tolerated) |
| FitCons score | 0.646 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -0.141 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.029 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.016 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 9.859 |
| Deleterious probability by iFish2 | 0.0737 (Neutral) |
| Deleterious probability by DeFine | 0.5925 (Deleterious) |
| Entrez Gene ID | 222183 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SRRM3 (GeneCards) |
| Number of variants in SRRM3 in this database | 2 (view all the variants) |
| Full name | serine/arginine repetitive matrix 3 |
| Band | 7q11.23 |
| Other IDs | Vega: OTTHUMG00000130489 HGNC: HGNC:26729 Ensembl: ENSG00000177679 |
| Other names | None |
| Summary | None |
| Individual ID | 28714951.355 (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; |