| Variant ID | 29996 |
|---|---|
| Entrez Gene ID | 202915 |
| Gene | TMEM184A (GeneCards) |
| Location | hg19 7:1589981-1589981
hg38 7:1550345-1550345 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000007.13:g.1589981 C>G (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 146 |
| Amino acid changes in protein | E > Q |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NM_001097620 |
| mRNA length | NA |
| Reference length | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.3909 |
| CADD Raw score (version 1.3) | 3.627223 (Deleterious) |
| FATHMM raw prediction score | 0.92853 (Tolerated) |
| SIFT score | 0.011 (Deleterious) |
| LRT score | 0 |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.44 (Deleterious) |
| PROVEAN score | -2.74 (Deleterious) |
| MetaSVM score | -0.576 (Tolerated) |
| MetaLR score | 0.243 (Tolerated) |
| MCAP score | 0.028 (Deleterious) |
| FitCons score | 0.646 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.77 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.659 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 13.12 |
| Deleterious probability by iFish2 | 0.924 (Deleterious) |
| Deleterious probability by DeFine | 0.9481 (Deleterious) |
| Entrez Gene ID | 202915 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TMEM184A (GeneCards) |
| Number of variants in TMEM184A in this database | 1 (view all the variants) |
| Full name | transmembrane protein 184A |
| Band | 7p22.3 |
| Other IDs | Vega: OTTHUMG00000119025 HGNC: HGNC:28797 Ensembl: ENSG00000164855 |
| Other names | SDMG1 |
| Summary | None |
| Individual ID | 28503910.220 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Father |
| Phenotype | 2 |
| Number of affected children | 1 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |