NM_000055.4(BCHE):c.1171_1174dup (p.Phe392Ter) AND Deficiency of butyrylcholinesterase
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003226803.1
Allele description [Variation Report for NM_000055.4(BCHE):c.1171_1174dup (p.Phe392Ter)]
NM_000055.4(BCHE):c.1171_1174dup (p.Phe392Ter)
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
Assertion and evidence details
Last Updated: May 13, 2023