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rs202147520

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs202147520(C;T)
Make rs202147520(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47332144
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs202147520
dbSNP (old)rs202147520
ClinGenrs202147520
ebirs202147520
HLIrs202147520
Exacrs202147520
Gnomadrs202147520
Varsomers202147520
Maprs202147520
PheGenIrs202147520
Biobankrs202147520
1000 genomesrs202147520
hgdprs202147520
ensemblrs202147520
gopubmedrs202147520
geneviewrs202147520
scholarrs202147520
googlers202147520
pharmgkbrs202147520
gwascentralrs202147520
openSNPrs202147520
23andMers202147520
23andMe allrs202147520
SNP Nexus

SNPshotrs202147520
SNPdbers202147520
MSV3drs202147520
GWAS Ctlgrs202147520
Max Magnitude0

c.3742G>A (p.Gly1248Arg)

Note that in contrast to the ClinVar box shown below, current clinical status of this variant is "uncertain significance".

[PMID 18403758OA-icon.png] Shared genetic causes of cardiac hypertrophy in children and adults.


[PMID 23299917OA-icon.png] New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.


ClinVar
Risk rs202147520(T;T)
Alt rs202147520(T;T)
Reference Rs202147520(C;C)
Significance Pathogenic
Disease not specified Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN not specified Primary familial hypertrophic cardiomyopathy
Reversed 0
HGVS NC_000011.9:g.47353695C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000035614.3, RCV000148669.1,