| Variant ID | 10090 |
|---|---|
| Entrez Gene ID | 389434 |
| Gene | IYD (GeneCards) |
| Location | hg19 6:150836192-150836192
hg38 6:150515056-150515056 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.150836192 A>T (Genome Assembly: GRCh37) |
| 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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1829 |
| CADD Raw score (version 1.3) | -0.302597 (Deleterious) |
| FATHMM raw prediction score | 0.17186 (Tolerated) |
| Deleterious probability by DeFine | 0.4576 (Neutral) |
| Entrez Gene ID | 389434 (NCBI Gene) |
|---|---|
| Official Gene Symbol | IYD (GeneCards) |
| Number of variants in IYD in this database | 5 (view all the variants) |
| Full name | iodotyrosine deiodinase |
| Band | 6q25.1 |
| Other IDs | Vega: OTTHUMG00000016347 OMIM: 612025 HGNC: HGNC:21071 Ensembl: ENSG00000009765 |
| Other names | TDH4, IYD-1, DEHAL1, C6orf71 |
| Summary | This gene encodes an enzyme that catalyzes the oxidative NADPH-dependent deiodination of mono- and diiodotyrosine, which are the halogenated byproducts of thyroid hormone production. The N-terminus of the protein functions as a membrane anchor. Mutations in this gene cause congenital hypothyroidism due to dyshormonogenesis type 4, which is also referred to as deiodinase deficiency, or iodotyrosine dehalogenase deficiency, or thyroid hormonogenesis type 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] |
| Individual ID | 29217584.18 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Male Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |