| Variant ID | 29517 |
|---|---|
| Entrez Gene ID | 7067 |
| Gene | THRA (GeneCards) |
| Location | hg19 17:38243055-38243055
hg38 17:40086802-40086802 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000017.10:g.38243055 G>A (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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0.00009697 |
|---|---|
| EIGEN score | 1.7097 |
| CADD Raw score (version 1.3) | 1.760229 (Deleterious) |
| FATHMM raw prediction score | 0.8992 (Tolerated) |
| Deleterious probability by DeFine | 0.8956 (Deleterious) |
| Entrez Gene ID | 7067 (NCBI Gene) |
|---|---|
| Official Gene Symbol | THRA (GeneCards) |
| Number of variants in THRA in this database | 2 (view all the variants) |
| Full name | thyroid hormone receptor alpha |
| Band | 17q21.1 |
| Other IDs | Vega: OTTHUMG00000133332 OMIM: 190120 HGNC: HGNC:11796 Ensembl: ENSG00000126351 |
| Other names | AR7, EAR7, ERBA, CHNG6, ERBA1, NR1A1, THRA1, THRA2, ERB-T-1, c-ERBA-1 |
| Summary | The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.193 (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; |