| Variant ID | 4689 |
|---|---|
| Entrez Gene ID | 590 |
| Gene | BCHE (GeneCards) |
| Location | hg19 3:166598819-166598819
hg38 3:166881031-166881031 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.166598819 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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0289 |
| CADD Raw score (version 1.3) | -0.056026 (Deleterious) |
| FATHMM raw prediction score | 0.09761 (Tolerated) |
| Deleterious probability by DeFine | 0.287 (Neutral) |
| Entrez Gene ID | 590 (NCBI Gene) |
|---|---|
| Official Gene Symbol | BCHE (GeneCards) |
| Number of variants in BCHE in this database | 15 (view all the variants) |
| Full name | butyrylcholinesterase |
| Band | 3q26.1 |
| Other IDs | Vega: OTTHUMG00000158131 OMIM: 177400 HGNC: HGNC:983 Ensembl: ENSG00000114200 |
| Other names | E1, CHE1, CHE2, BCHED |
| Summary | This gene encodes a cholinesterase enzyme and member of the type-B carboxylesterase/lipase family of proteins. The encoded enzyme exhibits broad substrate specificity and is involved in the detoxification of poisons including organophosphate nerve agents and pesticides, and the metabolism of drugs including cocaine, heroin and aspirin. Humans homozygous for certain mutations in this gene exhibit prolonged apnea after administration of the muscle relaxant succinylcholine. [provided by RefSeq, Jul 2016] |
| 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; |