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rs1057516464

From SNPedia

ClinVar
Risk rs1057516464(-;-)
Alt rs1057516464(-;-)
Reference Rs1057516464(ATACTCTAAAAGAC;ATACTCTAAAAGAC)
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.23908184_23908197delGTCTTTTAGAGTAT
CLNSRC
CLNACC RCV000410298.1,