LMNA, lamin A/C, 4000

N. diseases: 824; N. variants: 285
Disease: Progeria ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs58571998
rs58571998
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0033300
Disease:
Progeria 		0.010 GeneticVariation BEFREE The mutant constructs used included the laminopathy-inducing lamin A rod domain mutants N195K, E358K, M371K, R386K, the tail domain mutants G465D, R482L, and R527P, and the Hutchinson-Gilford progeria syndrome-causing deletion mutant, progerin (LaA delta50). 16440304 2006