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rs863225458

From SNPedia

ClinVar
Risk rs863225458(;)
Alt rs863225458(;)
Reference rs863225458(TCAG;TCAG)
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.53423153_53423156delCTGA
CLNSRC
CLNACC RCV000202429.1,