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rs1057517134

From SNPedia

ClinVar
Risk rs1057517134(-;-)
Alt rs1057517134(-;-)
Reference Rs1057517134(GCCACTGGCCGGT;GCCACTGGCCGGT)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 5
Variation info
Gene CLN5
CLNDBN Ceroid lipofuscinosis neuronal 5
Reversed 0
HGVS NC_000013.10:g.77566388_77566400delACTGGCCGGTGCC
CLNSRC
CLNACC RCV000410399.1,