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rs797045723

From SNPedia

ClinVar
Risk rs797045723(A;A)
Alt rs797045723(A;A)
Reference rs797045723(;)
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.149818290dupA
CLNSRC
CLNACC RCV000193112.1,