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rs730882123

From SNPedia

ClinVar
Risk rs730882123(AGTCCCCG;AGTCCCCG)
Alt rs730882123(AGTCCCCG;AGTCCCCG)
Reference rs730882123(GGGGACTGGCT;GGGGACTGGCT)
Significance Pathogenic
Disease Myasthenic syndrome
Variation info
Gene SEC61B ALG2
CLNDBN Myasthenic syndrome, congenital, 14
Reversed 1
HGVS NC_000009.11:g.101983953_101983963delAGCCAGTCCCCinsCGGGGACT
CLNSRC OMIM Allelic Variant
CLNACC RCV000161140.4,