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rs193922384

From SNPedia

ClinVar
Risk rs193922384(GGGGGCATCTATGTCTGC;GGGGGCATCTATGTCTGC)
Alt rs193922384(GGGGGCATCTATGTCTGC;GGGGGCATCTATGTCTGC)
Reference rs193922384(;)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 4 Primary familial hypertrophic cardiomyopathy Cardiomyopathy not provided
Variation info
Gene MYBPC3
CLNDBN Familial hypertrophic cardiomyopathy 4 Primary familial hypertrophic cardiomyopathy Cardiomyopathy not provided
Reversed 1
HGVS NC_000011.9:g.47353678_47353695dup18
CLNSRC OMIM Allelic Variant
CLNACC RCV000009134.5, RCV000030290.1, RCV000158406.1, RCV000223778.1,