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rs797045709

From SNPedia

ClinVar
Risk rs797045709(T;T)
Alt rs797045709(T;T)
Reference rs797045709(;)
Significance Pathogenic
Disease Severe X-linked myotubular myopathy
Variation info
Gene MTM1
CLNDBN Severe X-linked myotubular myopathy
Reversed 0
HGVS NC_000023.10:g.149818336dupT
CLNSRC
CLNACC RCV000192362.1,