| Variant ID | 29293 |
|---|---|
| Entrez Gene ID | 145942 |
| Gene | TMCO5A (GeneCards) |
| Location | hg19 15:38233837-38233837
hg38 15:37941636-37941636 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000015.9:g.38233837 C>T (Genome Assembly: GRCh37) |
| Exon or Intron | Intron |
|---|---|
| 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 | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0.0003 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs200564657 |
| EIGEN score | 0.1256 |
| CADD Raw score (version 1.3) | 0.014807 (Deleterious) |
| FATHMM raw prediction score | 0.07683 (Tolerated) |
| Deleterious probability by DeFine | 0.5927 (Deleterious) |
| Entrez Gene ID | 145942 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TMCO5A (GeneCards) |
| Number of variants in TMCO5A in this database | 2 (view all the variants) |
| Full name | transmembrane and coiled-coil domains 5A |
| Band | 15q14 |
| Other IDs | Vega: OTTHUMG00000129787 HGNC: HGNC:28558 Ensembl: ENSG00000166069 |
| Other names | TMCO5 |
| Summary | None |
| Individual ID | 28503910.170 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Normal |
| Phenotype | 2 |
| 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; |