| Variant ID | 15027 |
|---|---|
| Entrez Gene ID | 6309 |
| Gene | SC5D (GeneCards) |
| Location | hg19 11:121249064-121249064
hg38 11:121378355-121378355 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000011.9:g.121249064 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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | 0.02702 (Deleterious) |
| FATHMM raw prediction score | 0.092 (Tolerated) |
| Deleterious probability by DeFine | 0.0876 (Neutral) |
| Entrez Gene ID | 6309 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SC5D (GeneCards) |
| Number of variants in SC5D in this database | 2 (view all the variants) |
| Full name | sterol-C5-desaturase |
| Band | 11q23.3-q24.1 |
| Other IDs | Vega: OTTHUMG00000166068 OMIM: 602286 HGNC: HGNC:10547 Ensembl: ENSG00000109929 |
| Other names | ERG3, S5DES, SC5DL |
| Summary | This gene encodes an enzyme of cholesterol biosynthesis. The encoded protein catalyzes the conversion of lathosterol into 7-dehydrocholesterol. Mutations in this gene have been associated with lathosterolosis. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |