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rs1057517187

From SNPedia
ClinVar
Risk rs1057517187(-;-)
Alt rs1057517187(-;-)
Reference Rs1057517187(GGCGGGGTGAGCGGC;GGCGGGGTGAGCGGC)
Significance Probable-Pathogenic
Disease Galactosylceramide beta-galactosidase deficiency
Variation info
Gene GALC
CLNDBN Galactosylceramide beta-galactosidase deficiency
Reversed 1
HGVS NC_000014.8:g.88459305_88459319delGCCGCTCACCCCGCC
CLNSRC
CLNACC RCV000410838.1,