NM_000055.4(BCHE):c.1492C>T (p.Arg498Trp) AND Deficiency of butyrylcholinesterase
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 23, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000664821.1
Allele description [Variation Report for NM_000055.4(BCHE):c.1492C>T (p.Arg498Trp)]
NM_000055.4(BCHE):c.1492C>T (p.Arg498Trp)
Condition(s)
- Name:
- Deficiency of butyrylcholinesterase (BCHED)
- Synonyms:
- Butyrylcholinesterase deficiency; BCHE deficiency; CHE1 deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015270; MedGen: C1283400; OMIM: 617936
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Laccaria bicolor S238N-H82 uncharacterized protein (LACBIDRAFT_395470), partial ...
Laccaria bicolor S238N-H82 uncharacterized protein (LACBIDRAFT_395470), partial mRNAgi|170114190|ref|XM_001888258.1|Nucleotide
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Last Updated: Dec 24, 2023