LMNA Chromosome 1
Lamin A/C
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What This Gene Does
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]
Gene Info
Gene Group
Lamins
Locus Type
gene with protein product
Location
1q22
Ensembl
ENSG00000160789
Associated Conditions (81)
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Dilated cardiomyopathy 1A
Cardiovascular phenotype
11 conditions
Primary dilated cardiomyopathy
Congenital muscular dystrophy
Familial partial lipodystrophy
Dunnigan type
Laminopathy
Emery-Dreifuss muscular dystrophy 3
autosomal recessive
Monogenic diabetes
LMNA-related disorder
Lipodystrophy - childhood onset
7 conditions
Mandibuloacral dysplasia with type A lipodystrophy
atypical
Charcot-Marie-Tooth disease
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
+61 more conditions
Key Variants
RS1001248677
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Cardiomyopathy, Dilated cardiomyopathy 1A
Health Risk
RS1016767319
Conflicting classifications of pathogenicity
Cardiomyopathy, Charcot-Marie-Tooth disease type 2, 11 conditions
Health Risk
RS1026599240
Conflicting classifications of pathogenicity
Cardiomyopathy, Charcot-Marie-Tooth disease type 2, Primary dilated cardiomyopathy
Health Risk
RS1048086299
Conflicting classifications of pathogenicity
Health Risk
RS1057518971
Conflicting classifications of pathogenicity
Congenital muscular dystrophy, Charcot-Marie-Tooth disease type 2, Congenital muscular dystrophy
Health Risk
RS1060502216
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Cardiomyopathy, 11 conditions
Health Risk
RS1064796394
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
Health Risk
RS1131690785
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
Health Risk
RS11575937
Conflicting classifications of pathogenicity
Familial partial lipodystrophy, Dunnigan type, Laminopathy
Health Risk
RS1166140426
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype, Cardiomyopathy
Health Risk
RS1168314722
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Primary dilated cardiomyopathy, Charcot-Marie-Tooth disease type 2
Health Risk
RS1171976101
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Cardiomyopathy, Primary dilated cardiomyopathy
Health Risk
All Variants (613)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1572358821 | Health Risk | Likely pathogenic | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS1572359505 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS1572362631 | Health Risk | Likely pathogenic | — |
| RS1572363509 | Health Risk | Likely pathogenic | LMNA-associated condition, LMNA-associated condition |
| RS1572366608 | Health Risk | Likely pathogenic | — |
| RS1572370360 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1A, Dilated cardiomyopathy 1A |
| RS1649721643 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS1650974818 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS1651348222 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS1651453317 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS1651596554 | Health Risk | Likely pathogenic | Proximal muscle weakness, Proximal muscle weakness |
| RS1651598289 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS1651642668 | Health Risk | Likely pathogenic | Cardiomyopathy, Cardiomyopathy |
| RS199474724 | Health Risk | Likely pathogenic | Emery-Dreifuss muscular dystrophy 2, autosomal dominant, Emery-Dreifuss muscular dystrophy 3 |
| RS2102817930 | Health Risk | Likely pathogenic | Hutchinson-Gilford syndrome, Hutchinson-Gilford syndrome |
| RS2102817952 | Health Risk | Likely pathogenic | 7 conditions, 7 conditions |
| RS2102818172 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS2102818914 | Health Risk | Likely pathogenic | — |
| RS2102881813 | Health Risk | Likely pathogenic | Abnormality of the musculature, Abnormality of the musculature |
| RS2102893640 | Health Risk | Likely pathogenic | — |
| RS2102896324 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype, Dilated cardiomyopathy 1A |
| RS2102898301 | Health Risk | Likely pathogenic | Cardiomyopathy, 11 conditions, Cardiomyopathy |
| RS2102901069 | Health Risk | Likely pathogenic | Familial partial lipodystrophy, Dunnigan type, Familial partial lipodystrophy |
| RS2102901937 | Health Risk | Likely pathogenic | Cardiomyopathy, Cardiomyopathy |
| RS2527828682 | Health Risk | Likely pathogenic | — |
| RS2527829303 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS2527833277 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS2527834624 | Health Risk | Likely pathogenic | Sick sinus syndrome, Sick sinus syndrome |
| RS2527937180 | Health Risk | Likely pathogenic | Congenital muscular dystrophy due to LMNA mutation, Congenital muscular dystrophy due to LMNA mutation |
| RS2527972277 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1A, Dilated cardiomyopathy 1A |
| RS2527972496 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1A, Dilated cardiomyopathy 1A |
| RS2527973813 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS2527980043 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1A, Dilated cardiomyopathy 1A |
| RS2527991248 | Health Risk | Likely pathogenic | Cardiomyopathy, Cardiomyopathy |
| RS2527991951 | Health Risk | Likely pathogenic | Emery-Dreifuss muscular dystrophy 2, autosomal dominant, Emery-Dreifuss muscular dystrophy 2 |
| RS2528006468 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2528018166 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS267607539 | Health Risk | Likely pathogenic | Emery-Dreifuss muscular dystrophy 2, autosomal dominant, Cardiovascular phenotype |
| RS267607542 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS267607559 | Health Risk | Likely pathogenic | Heart-hand syndrome, Slovenian type, Charcot-Marie-Tooth disease type 2 |
| RS267607576 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 2, Primary dilated cardiomyopathy, Cardiovascular phenotype |
| RS267607582 | Health Risk | Likely pathogenic | Heart-hand syndrome, Slovenian type, Primary dilated cardiomyopathy |
| RS267607584 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS267607594 | Health Risk | Likely pathogenic | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS267607603 | Health Risk | Likely pathogenic | Familial partial lipodystrophy, Dunnigan type, Lethal tight skin contracture syndrome |
| RS267607627 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2, Congenital muscular dystrophy due to LMNA mutation |
| RS267607629 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2 |
| RS267607631 | Health Risk | Likely pathogenic | Abnormality of the musculature, Abnormality of the musculature |
| RS267607636 | Health Risk | Likely pathogenic | — |
| RS267607639 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |