| Variant ID | 29511 |
|---|---|
| Entrez Gene ID | 57496 |
| Gene | MKL2 (GeneCards) |
| Location | hg19 16:14342897-14342897
hg38 16:14249040-14249040 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000016.9:g.14342897 T>C (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 | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0393 |
| CADD Raw score (version 1.3) | 1.653473 (Deleterious) |
| FATHMM raw prediction score | 0.95618 (Tolerated) |
| SIFT score | 0.435 (Tolerated) |
| LRT score | 0.086 (Tolerated) |
| MutationTaster score | 0.943 (Deleterious) |
| MutatioinAssessor score | 2.555 (Deleterious) |
| PROVEAN score | -0.73 (Tolerated) |
| MetaSVM score | -0.567 (Tolerated) |
| MetaLR score | 0.286 (Tolerated) |
| MCAP score | 0.026 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.43 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.072 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.963 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 10.606 |
| Deleterious probability by iFish2 | 0.2337 (Neutral) |
| Deleterious probability by DeFine | 0.914 (Deleterious) |
| Entrez Gene ID | 57496 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MKL2 (GeneCards) |
| Number of variants in MRTFB in this database | 2 (view all the variants) |
| Full name | myocardin related transcription factor B |
| Band | 16p13.12 |
| Other IDs | Vega: OTTHUMG00000177379 OMIM: 609463 HGNC: HGNC:29819 Ensembl: ENSG00000186260 |
| Other names | MKL2, MRTF-B, NPD001 |
| Summary | None |
| Individual ID | 28714951.187 (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; |