NM_024334.2(TMEM43):c.934C>T (p.Arg312Trp) AND Cardiomyopathy

Clinical significance:Benign (Last evaluated: Apr 9, 2015)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000030555.1

Allele description [Variation Report for NM_024334.2(TMEM43):c.934C>T (p.Arg312Trp)]

NM_024334.2(TMEM43):c.934C>T (p.Arg312Trp)

Gene:
TMEM43:transmembrane protein 43 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.1
Genomic location:
Preferred name:
NM_024334.2(TMEM43):c.934C>T (p.Arg312Trp)
Other names:
p.R312W:CGG>TGG
HGVS:
  • NC_000003.12:g.14139231C>T
  • NG_008975.1:g.19292C>T
  • NM_024334.2:c.934C>T
  • NP_077310.1:p.Arg312Trp
  • LRG_435t1:c.934C>T
  • LRG_435:g.19292C>T
  • LRG_435p1:p.Arg312Trp
  • NC_000003.11:g.14180731C>T
  • c.934C>T
Protein change:
R312W
Links:
dbSNP: 113449357
GMAF:
0.0038(T), 113449357
NCBI 1000 Genomes Browser:
rs113449357
Allele Frequency:
0.00905(T), GO-ESP
Molecular consequence:
  • NM_024334.2:c.934C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiomyopathy (CMYO)
Identifiers:
MedGen: C0878544

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000053226Laboratory Corporation of Americano assertion criteria providedBenign
(Apr 9, 2015)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Laboratory Corporation of America, SCV000053226.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 26, 2017