LMNA, lamin A/C, 4000

N. diseases: 824; N. variants: 285
Disease: Charcot-Marie-Tooth Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs59885338
rs59885338
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007959
Disease:
Charcot-Marie-Tooth Disease 		0.730 GeneticVariation BEFREE Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from North Western Africa. 18549403 2008
dbSNP: rs59885338
rs59885338
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007959
Disease:
Charcot-Marie-Tooth Disease 		0.730 GeneticVariation BEFREE In conclusion, the ARCMT2 associated with the R298C mutation differs from other types of ARCMT2. 14607793 2004
dbSNP: rs59885338
rs59885338
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007959
Disease:
Charcot-Marie-Tooth Disease 		0.730 GeneticVariation BEFREE In this study we report the phenotype of autosomal recessive axonal Charcot-Marie-Tooth type 2 due to a recently-described mutation (c.892C>T-p.R298C) in a gene encoding Lamin A/C nuclear envelope proteins and the first gene in which a mutation leads to autosomal recessive Charcot-Marie-Tooth type 2. 12467734 2003
dbSNP: rs59885338
rs59885338
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007959
Disease:
Charcot-Marie-Tooth Disease 		T 0.730 CausalMutation CLINVAR