Have questions? Visit https://www.reddit.com/r/SNPedia

rs797045719

From SNPedia

ClinVar
Risk rs797045719(G;G)
Alt rs797045719(G;G)
Reference rs797045719(;)
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.149809762dupG
CLNSRC
CLNACC RCV000195004.1,