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rs869025282

From SNPedia

ClinVar
Risk rs869025282(GATCGTGGAAC;GATCGTGGAAC) rs869025282(CTAGGACCACTTCC;CTAGGACCACTTCC)
Alt rs869025282(GATCGTGGAAC;GATCGTGGAAC) rs869025282(CTAGGACCACTTCC;CTAGGACCACTTCC)
Reference Rs869025282(C;C)
Significance Pathogenic
Disease Spastic paraplegia and psychomotor retardation with or without seizures
Variation info
Gene HACE1
CLNDBN Spastic paraplegia and psychomotor retardation with or without seizures
Reversed 1
HGVS NC_000006.11:g.105219259_105219260insAATACCTAAAAATACCTAAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000207049.1,