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rs797045721

From SNPedia

ClinVar
Risk rs797045721(GG;GG)
Alt rs797045721(GG;GG)
Reference rs797045721(;)
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.149814344_149814345dupGG
CLNSRC
CLNACC RCV000194416.1,