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rs1057516552

From SNPedia
ClinVar
Risk rs1057516552(-;-)
Alt rs1057516552(-;-)
Reference Rs1057516552(CCAGGCAGAAGTGGGGCCC;CCAGGCAGAAGTGGGGCCC)
Significance Probable-Pathogenic
Disease Homocystinuria due to CBS deficiency
Variation info
Gene CBSL CBS
CLNDBN Homocystinuria due to CBS deficiency
Reversed 1
HGVS NC_000021.8:g.44492268_44492286del19
CLNSRC
CLNACC RCV000409242.1,