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rs515726179

From SNPedia

ClinVar
Risk rs515726179(;)
Alt rs515726179(;)
Reference rs515726179(AGAAGGCCTTAGA;AGAAGGCCTTAGA)
Significance Pathogenic
Disease Carnitine palmitoyltransferase II deficiency
Variation info
Gene CPT2
CLNDBN Carnitine palmitoyltransferase II deficiency
Reversed 0
HGVS NC_000001.10:g.53679213_53679225delGAAGGCCTTAGAA
CLNSRC
CLNACC RCV000202522.1,