rs11549668
This variant is located in the LMNA gene.
▶ClinVar annotation
Primary dilated cardiomyopathy; not specified; not provided; Charcot-Marie-Tooth disease type 2; Cardiovascular phenotype; Limb-girdle muscular dystrophy, recessive; Lethal tight skin contracture syndrome; Hutchinson-Gilford syndrome; Mandibuloacral dysplasia with type A lipodystrophy; Congenital muscular dystrophy due to LMNA mutation; Familial partial lipodystrophy, Dunnigan type; Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules; Emery-Dreifuss muscular dystrophy; Cardiomyopathy; Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Charcot-Marie-Tooth disease; 11 conditions; Hypertrophic cardiomyopathy 2
View on ClinVar →About LMNA
The protein encoded by this gene is part of the nuclear lamina, a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, May 2022]
View all LMNA variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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