rs730882262, LMNA

N. diseases: 4
Disease: Premature aging syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Premature aging syndrome
CUI: C0231341
Disease: Premature aging syndrome
0.010 GeneticVariation BEFREE In summary, we report a novel LMNA p.L306R mutation that leads to previously undescribed hyper-assembly of lamin A, heavy distortion of nuclear shape and that manifests as right ventricular cardiomyopathy and premature aging. 25820511 2015