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rs386134179

From SNPedia

ClinVar
Risk rs386134179(CAGTG;CAGTG)
Alt rs386134179(CAGTG;CAGTG)
Reference rs386134179(;)
Significance Pathogenic
Disease Infantile-onset ascending hereditary spastic paralysis
Variation info
Gene ALS2
CLNDBN Infantile-onset ascending hereditary spastic paralysis
Reversed 1
HGVS NC_000002.11:g.202611462_202611466dupCACTG
CLNSRC
CLNACC RCV000034965.2,