NM_000055.4(BCHE):c.1667A>T (p.Lys556Ile) AND Deficiency of butyrylcholinesterase
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001146598.4
Allele description [Variation Report for NM_000055.4(BCHE):c.1667A>T (p.Lys556Ile)]
NM_000055.4(BCHE):c.1667A>T (p.Lys556Ile)
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
-
SAMN15393904 (1)
SRA
-
Mbr1p [Saccharomyces cerevisiae S288C]
Mbr1p [Saccharomyces cerevisiae S288C]gi|6322757|ref|NP_012830.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Apr 9, 2023