| Variant ID | 10140 |
|---|---|
| Entrez Gene ID | 51302 |
| Gene | CYP39A1 (GeneCards) |
| Location | hg19 6:46532141-46532141
hg38 6:46564404-46564404 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.46532141 C>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 | -0.3605 |
| CADD Raw score (version 1.3) | 0.025035 (Deleterious) |
| FATHMM raw prediction score | 0.0764 (Tolerated) |
| Deleterious probability by DeFine | 0.1205 (Neutral) |
| Entrez Gene ID | 51302 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CYP39A1 (GeneCards) |
| Number of variants in CYP39A1 in this database | 2 (view all the variants) |
| Full name | cytochrome P450 family 39 subfamily A member 1 |
| Band | 6p12.3 |
| Other IDs | Vega: OTTHUMG00000014785 OMIM: 605994 HGNC: HGNC:17449 Ensembl: ENSG00000146233 |
| Other names | None |
| Summary | This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein is involved in the conversion of cholesterol to bile acids. Its substrates include the oxysterols 25-hydroxycholesterol, 27-hydroxycholesterol and 24-hydroxycholesterol. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] |
| 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; |