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rs281864927

From SNPedia

ClinVar
Risk rs281864927(TGAAAGAAAAA;TGAAAGAAAAA)
Alt rs281864927(TGAAAGAAAAA;TGAAAGAAAAA)
Reference rs281864927(AAGTAACATGG;AAGTAACATGG)
Significance Pathogenic
Disease Distal myopathy Markesbery-Griggs type Limb-girdle muscular dystrophy
Variation info
Gene TTN TTN-AS1
CLNDBN Distal myopathy Markesbery-Griggs type Limb-girdle muscular dystrophy, type 2J
Reversed 1
HGVS NC_000002.11:g.179391925_179391935delCCATGTTACTTinsTTTTTCTTTCA
CLNSRC Leiden Muscular Dystrophy pages (TTN) OMIM Allelic Variant
CLNACC RCV000013487.26, RCV000013488.24,


[PMID 18948003] Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).