| Variant ID | 18625 |
|---|---|
| Entrez Gene ID | 10202 |
| Gene | DHRS2 (GeneCards) |
| Location | hg19 14:24238551-24238551
hg38 14:23769342-23769342 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000014.8:g.24238551 G>A (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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0.00006459 |
|---|---|
| EIGEN score | -0.5358 |
| CADD Raw score (version 1.3) | -0.166289 (Deleterious) |
| FATHMM raw prediction score | 0.08817 (Tolerated) |
| Deleterious probability by DeFine | 0.1699 (Neutral) |
| Entrez Gene ID | 10202 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DHRS2 (GeneCards) |
| Number of variants in DHRS2 in this database | 5 (view all the variants) |
| Full name | dehydrogenase/reductase 2 |
| Band | 14q11.2 |
| Other IDs | Vega: OTTHUMG00000028771 OMIM: 615194 HGNC: HGNC:18349 Ensembl: ENSG00000100867 |
| Other names | HEP27, SDR25C1 |
| Summary | This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family, which has over 46,000 members. Members of this family are enzymes that metabolize many different compounds, such as steroid hormones, prostaglandins, retinoids, lipids and xenobiotics. Alternative promoter use and alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017] |
| Individual ID | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female 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; |