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rs797045717

From SNPedia

ClinVar
Risk rs797045717(;)
Alt rs797045717(;)
Reference rs797045717(GTAAA;GTAAA)
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.149783172_149783176delAGTAA
CLNSRC
CLNACC RCV000195024.1,