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rs797044504

From SNPedia

ClinVar
Risk rs797044504(;)
Alt rs797044504(;)
Reference rs797044504(AAGT;AAGT)
Significance Pathogenic
Disease not provided Severe X-linked myotubular myopathy
Variation info
Gene MTM1
CLNDBN not provided Severe X-linked myotubular myopathy
Reversed 0
HGVS NC_000023.10:g.149832085_149832088delAAGT
CLNSRC HGMD
CLNACC RCV000153519.2, RCV000174668.1,