Disease: Hypertrophic obstructive cardiomyopathy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1157637439
rs1157637439
Entrez Id: 57176
Gene Symbol: VARS2
VARS2
CUI: C4551472
Disease:
Hypertrophic obstructive cardiomyopathy 		0.010 GeneticVariation BEFREE We report the novel compound heterozygous pathogenic VARS2 mutations c.643 C > T (p. His215Tyr) and c.1354 A > G (p. Met452Val) in a female infant who presented with poor sucking at birth, poor activity, hyporeflexia, hypertonia, persistent pulmonary hypertension of newborn (PPHN), metabolic acidosis, severe lactic acidosis, expansion and hypertrophic cardiomyopathy. 30458719 2018