Have questions? Visit https://www.reddit.com/r/SNPedia

rs730880711

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;C) 6 Familial Hypertrophic Cardiomyopathy (possible)
Make rs730880711(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47342928
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs730880711
dbSNP (old)rs730880711
ClinGenrs730880711
ebirs730880711
HLIrs730880711
Exacrs730880711
Varsomers730880711
Maprs730880711
PheGenIrs730880711
Biobankrs730880711
1000 genomesrs730880711
hgdprs730880711
ensemblrs730880711
gopubmedrs730880711
geneviewrs730880711
scholarrs730880711
googlers730880711
pharmgkbrs730880711
gwascentralrs730880711
openSNPrs730880711
23andMers730880711
23andMe allrs730880711
SNP Nexus

SNPshotrs730880711
SNPdbers730880711
MSV3drs730880711
GWAS Ctlgrs730880711
Merged fromRs863225110
Max Magnitude6
ClinVar
Risk rs730880711(C;C)
Alt rs730880711(C;C)
Reference Rs730880711(-;-)
Significance Pathogenic
Disease Cardiomyopathy Familial hypertrophic cardiomyopathy 4
Variation info
Gene MYBPC3
CLNDBN Cardiomyopathy Familial hypertrophic cardiomyopathy 4
Reversed 1
HGVS NC_000011.9:g.47364480dupG
CLNSRC
CLNACC RCV000158474.1, RCV000201508.1,



This is expected to be a truncating variant resulting in a abnormal or absent protein. Truncating variants of MYBPC3 are usually pathogenic for HCM. Submitters to ClinVar have reported one individual with Familial Hypertrophic Cardiomyopathy. [1]