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rs863225062

From SNPedia

ClinVar
Risk rs863225062(T;T)
Alt rs863225062(T;T)
Reference rs863225062(;)
Significance Pathogenic
Disease Beta-hydroxyisobutyryl-CoA deacylase deficiency
Variation info
Gene HIBCH
CLNDBN Beta-hydroxyisobutyryl-CoA deacylase deficiency
Reversed 1
HGVS NC_000002.11:g.191069876dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000201262.2,