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rs863225459

From SNPedia

ClinVar
Risk rs863225459(GGCC;GGCC)
Alt rs863225459(GGCC;GGCC)
Reference rs863225459(;)
Significance Pathogenic
Disease Congenital muscular hypertrophy-cerebral syndrome
Variation info
Gene SMC1A
CLNDBN Congenital muscular hypertrophy-cerebral syndrome
Reversed 1
HGVS NC_000023.10:g.53407607_53407610dupGGCC
CLNSRC
CLNACC RCV000202430.1,