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rs797045718

From SNPedia

ClinVar
Risk rs797045718(A;A)
Alt rs797045718(A;A)
Reference rs797045718(;)
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.149787587dupA
CLNSRC
CLNACC RCV000192943.1,