| Variant ID | 29548 |
|---|---|
| Entrez Gene ID | 133558 |
| Gene | MROH2B (GeneCards) |
| Location | hg19 5:41048456-41048456
hg38 5:41048354-41048354 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000005.9:g.41048456 G>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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3209 |
| CADD Raw score (version 1.3) | 2.777391 (Deleterious) |
| FATHMM raw prediction score | 0.64352 (Tolerated) |
| SIFT score | 0.325 (Tolerated) |
| LRT score | 0.068 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 2.48 (Deleterious) |
| PROVEAN score | -1.23 (Tolerated) |
| MetaSVM score | -1.023 (Tolerated) |
| MetaLR score | 0.024 (Tolerated) |
| MCAP score | 0.006 (Tolerated) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.338 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.605 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 9.449 |
| Deleterious probability by iFish2 | 0.7247 (Deleterious) |
| Deleterious probability by DeFine | 0.9095 (Deleterious) |
| Entrez Gene ID | 133558 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MROH2B (GeneCards) |
| Number of variants in MROH2B in this database | 2 (view all the variants) |
| Full name | maestro heat like repeat family member 2B |
| Band | 5p13.1 |
| Other IDs | Vega: OTTHUMG00000162151 HGNC: HGNC:26857 Ensembl: ENSG00000171495 |
| Other names | SPIF, HEATR7B2 |
| Summary | None |
| Individual ID | 28714951.224 (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; |