| Variant ID | 29645 |
|---|---|
| Entrez Gene ID | 79684 |
| Gene | MSANTD2 (GeneCards) |
| Location | hg19 11:124637785-124637785
hg38 11:124767889-124767889 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000011.9:g.124637785 G>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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003228 |
|---|---|
| Variant IDs in COSMIC (version 89) | 6715686 |
| Variant occurences in COSMIC | 1(large_intestine) |
| EIGEN score | 0.6804 |
| CADD Raw score (version 1.3) | 6.624726 (Deleterious) |
| FATHMM raw prediction score | 0.99024 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 0.805 (Tolerated) |
| PROVEAN score | -2.51 (Deleterious) |
| MetaSVM score | -0.471 (Tolerated) |
| MetaLR score | 0.291 (Tolerated) |
| MCAP score | 0.003 (Tolerated) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.42 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.43 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.595 |
| Deleterious probability by iFish2 | 0.9769 (Deleterious) |
| Deleterious probability by DeFine | 0.9651 (Deleterious) |
| Entrez Gene ID | 79684 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MSANTD2 (GeneCards) |
| Number of variants in MSANTD2 in this database | 2 (view all the variants) |
| Full name | Myb/SANT DNA binding domain containing 2 |
| Band | 11q24.2 |
| Other IDs | Vega: OTTHUMG00000165931 HGNC: HGNC:26266 Ensembl: ENSG00000120458 |
| Other names | C11orf61 |
| Summary | None |
| Individual ID | 28714951.321 (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; |