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rs797045715

From SNPedia

ClinVar
Risk
Alt
Reference Rs797045715(AAAACAGGT;AAAACAGGT)
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.149828225_149828233delAACAGGTAA
CLNSRC
CLNACC RCV000192959.1,