| Variant ID | 29914 |
|---|---|
| Entrez Gene ID | 54531 |
| Gene | MIER2 (GeneCards) |
| Location | hg19 19:326548-326548
hg38 19:326548-326548 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000019.9:g.326548 C>T (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 | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.4722 |
| CADD Raw score (version 1.3) | 5.860697 (Deleterious) |
| FATHMM raw prediction score | 0.94566 (Tolerated) |
| SIFT score | 0.028 (Deleterious) |
| LRT score | 0.12 (Tolerated) |
| MutationTaster score | 0.54 (Deleterious) |
| MutatioinAssessor score | 2.175 (Deleterious) |
| PROVEAN score | -2.62 (Deleterious) |
| MetaSVM score | -0.517 (Tolerated) |
| MetaLR score | 0.166 (Tolerated) |
| MCAP score | 0.031 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.65 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.115 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.725 |
| Deleterious probability by iFish2 | 0.2443 (Neutral) |
| Deleterious probability by DeFine | 0.9518 (Deleterious) |
| Entrez Gene ID | 54531 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MIER2 (GeneCards) |
| Number of variants in MIER2 in this database | 1 (view all the variants) |
| Full name | MIER family member 2 |
| Band | 19p13.3 |
| Other IDs | Vega: OTTHUMG00000180532 HGNC: HGNC:29210 Ensembl: ENSG00000105556 |
| Other names | Mi-er2, KIAA1193 |
| Summary | None |
| Individual ID | 28867142.21 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male 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; |