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rs730880686

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;C) 6 Hypertrophic Cardiomyopathy possible
(C;C) 0 common in clinvar


Make rs730880686(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47346269
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs730880686
ClinGenrs730880686
ebirs730880686
HLIrs730880686
Exacrs730880686
Varsomers730880686
Maprs730880686
PheGenIrs730880686
hapmaprs730880686
1000 genomesrs730880686
hgdprs730880686
ensemblrs730880686
gopubmedrs730880686
geneviewrs730880686
scholarrs730880686
googlers730880686
pharmgkbrs730880686
gwascentralrs730880686
openSNPrs730880686
23andMers730880686
23andMe allrs730880686
SNP Nexus

SNPshotrs730880686
SNPdbers730880686
MSV3drs730880686
GWAS Ctlgrs730880686
Max Magnitude6
ClinVar
Risk rs730880686(-;-)
Alt rs730880686(-;-)
Reference Rs730880686(C;C)
Significance Pathogenic
Disease not provided Hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN not provided Hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47367820delG
CLNSRC
CLNACC RCV000158422.3, RCV000230998.2,



This is known as a truncating variant. It is expected to produce an abnormal or absent protein. Generally truncating variants on the MYBPC3 gene are known to be disease causing variants. Likewise submitters to ClinVar classify this variant as Pathogenic.

This variant has been reported in one individual with Hypertrophic Cardiomyopathy in literature. The variant in called delC343 in the paper. [PMID 12974739]