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NM_000055.4(BCHE):c.2T>C (p.Met1Thr) AND Suxamethonium response - slow metabolism

Germline classification:
drug response (1 submission)
Last evaluated:
Mar 16, 2018
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000659258.1

Allele description [Variation Report for NM_000055.4(BCHE):c.2T>C (p.Met1Thr)]

NM_000055.4(BCHE):c.2T>C (p.Met1Thr)

Gene:
BCHE:butyrylcholinesterase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q26.1
Genomic location:
Preferred name:
NM_000055.4(BCHE):c.2T>C (p.Met1Thr)
HGVS:
  • NC_000003.12:g.165831032A>G
  • NG_009031.1:g.11434T>C
  • NM_000055.4:c.2T>CMANE SELECT
  • NP_000046.1:p.Met1Thr
  • NC_000003.11:g.165548820A>G
  • NM_000055.3:c.2T>C
  • NR_137636.2:n.120T>C
Protein change:
M1T
Links:
dbSNP: rs751910853
NCBI 1000 Genomes Browser:
rs751910853
Molecular consequence:
  • NM_000055.4:c.2T>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_000055.4:c.2T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_137636.2:n.120T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Suxamethonium response - slow metabolism
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000778578Centre for Translational Omics - GOSgene, University College London
no assertion criteria provided
drug response
(Mar 16, 2018)
Condition: Suxamethonium response - slow metabolism
Drug reported used for: Butyrylcholinesterase deficiency		inheritedclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Centre for Translational Omics - GOSgene, University College London, SCV000778578.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Functional biochemical assay used to show reduced enzymatic activity in patient

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 3, 2023