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rs1057517451

From SNPedia
ClinVar
Risk rs1057517451(-;-)
Alt rs1057517451(-;-)
Reference Rs1057517451(AGTCCCAAAGC;AGTCCCAAAGC)
Significance Probable-Pathogenic
Disease Spastic ataxia Charlevoix-Saguenay type
Variation info
Gene SACS
CLNDBN Spastic ataxia Charlevoix-Saguenay type
Reversed 1
HGVS NC_000013.10:g.23910511_23910521delGCTTTGGGACT
CLNSRC
CLNACC RCV000410317.1,