LMNA, lamin A/C, 4000

N. diseases: 824; N. variants: 285
Disease: Familial partial lipodystrophy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057156731
rs1057156731
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0271694
Disease:
Familial partial lipodystrophy 		0.010 GeneticVariation BEFREE The study involved four subjects with familial partial lipodystrophy who had a novel PPARG mutation (H449L) and six subjects with classic codon 482 LMNA mutations (R482W). 26756202 2016