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rs864309673

From SNPedia

ClinVar
Risk
Alt
Reference Rs864309673(ATGGCCGGC;ATGGCCGGC)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene PLEC
CLNDBN Limb-girdle muscular dystrophy, type 2Q
Reversed 1
HGVS NC_000008.10:g.145047632_145047640delGCCGGCCAT
CLNSRC OMIM Allelic Variant
CLNACC RCV000023089.3,