| Variant ID | 8611 |
|---|---|
| Entrez Gene ID | 3157 |
| Gene | HMGCS1 (GeneCards) |
| Location | hg19 5:43335664-43335664
hg38 5:43335562-43335562 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.43335664 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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.064 |
| CADD Raw score (version 1.3) | 0.927935 (Deleterious) |
| FATHMM raw prediction score | 0.25017 (Tolerated) |
| Deleterious probability by DeFine | 0.0666 (Neutral) |
| Entrez Gene ID | 3157 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HMGCS1 (GeneCards) |
| Number of variants in HMGCS1 in this database | 4 (view all the variants) |
| Full name | 3-hydroxy-3-methylglutaryl-CoA synthase 1 |
| Band | 5p12 |
| Other IDs | Vega: OTTHUMG00000162231 OMIM: 142940 HGNC: HGNC:5007 Ensembl: ENSG00000112972 |
| Other names | HMGCS |
| Summary | None |
| Individual ID | 29217584.16 (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; |