| Variant ID | 29866 |
|---|---|
| Entrez Gene ID | 221154 |
| Gene | MICU2 (GeneCards) |
| Location | hg19 13:22077136-22077136
hg38 13:21502997-21502997 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000013.10:g.22077136 G>A (Genome Assembly: hg19) |
| 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 | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.8576 |
| CADD Raw score (version 1.3) | 6.488907 (Deleterious) |
| FATHMM raw prediction score | 0.9741 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.155 (Deleterious) |
| PROVEAN score | -3.62 (Deleterious) |
| MetaSVM score | -0.209 (Tolerated) |
| MetaLR score | 0.379 (Tolerated) |
| MCAP score | 0.047 (Deleterious) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.72 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.257 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.875 |
| Deleterious probability by iFish2 | 0.7658 (Deleterious) |
| Deleterious probability by DeFine | 0.9331 (Deleterious) |
| Entrez Gene ID | 221154 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MICU2 (GeneCards) |
| Number of variants in MICU2 in this database | 2 (view all the variants) |
| Full name | mitochondrial calcium uptake 2 |
| Band | 13q12.11 |
| Other IDs | Vega: OTTHUMG00000067414 OMIM: 610632 HGNC: HGNC:31830 Ensembl: ENSG00000165487 |
| Other names | EFHA1, 1110008L20Rik |
| Summary | None |
| Individual ID | 28867142.15 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Female Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |