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rs1057517510

From SNPedia

ClinVar
Risk rs1057517510(CCGGGAGCCCCCAGTCGGC;CCGGGAGCCCCCAGTCGGC)
Alt rs1057517510(CCGGGAGCCCCCAGTCGGC;CCGGGAGCCCCCAGTCGGC)
Reference Rs1057517510(-;-)
Significance Probable-Pathogenic
Disease Carnitine palmitoyltransferase II deficiency Carnitine palmitoyltransferase II deficiency Carnitine palmitoyltransferase II deficiency
Variation info
Gene CPT2
CLNDBN Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced Carnitine palmitoyltransferase II deficiency, infantile Carnitine palmitoyltransferase II deficiency, lethal neonatal
Reversed 0
HGVS NC_000001.10:g.53662669_53662687dup19
CLNSRC
CLNACC RCV000409552.1, RCV000411079.1, RCV000412110.1,