| Variant ID | 13780 |
|---|---|
| Entrez Gene ID | 3293 |
| Gene | HSD17B3 (GeneCards) |
| Location | hg19 9:99079342-99079342
hg38 9:96317060-96317060 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000009.11:g.99079342 A>C (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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.5478 |
| CADD Raw score (version 1.3) | -0.675278 (Deleterious) |
| FATHMM raw prediction score | 0.04133 (Tolerated) |
| Deleterious probability by DeFine | 0.2115 (Neutral) |
| Entrez Gene ID | 3293 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HSD17B3 (GeneCards) |
| Number of variants in HSD17B3 in this database | 6 (view all the variants) |
| Full name | hydroxysteroid 17-beta dehydrogenase 3 |
| Band | 9q22.32 |
| Other IDs | Vega: OTTHUMG00000020292 OMIM: 605573 HGNC: HGNC:5212 Ensembl: ENSG00000130948 |
| Other names | EDH17B3, SDR12C2 |
| Summary | This isoform of 17 beta-hydroxysteroid dehydrogenase is expressed predominantly in the testis and catalyzes the conversion of androstenedione to testosterone. It preferentially uses NADP as cofactor. Deficiency can result in male pseudohermaphroditism with gynecomastia. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |