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Gene

LMNA

lamin A/C

Summary

Cytogenetic location
1q22
Coordinates
Chromosome 1: 156,114,711–156,140,081 (GRCh38)
Exons
12 exons across 25.4 kb
Protein
664 amino acids
Inheritance
Autosomal dominant Autosomal recessive
Also known as
HGPS, MADA
Previous symbols
LMN1, CMD1A, LGMD1B, PRO1, LMNL1
MANE Select transcript
ENST00000368300.9NM_170707.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Progressive Cardiac Conduction Disease & Sick Sinus Syndrome

    • Cardiac Conduction Defect

      A general term for disorders of electrical conduction in the heart, including inherited forms of atrioventricular block.

      • 1 GenCC submitter rates it definitive or strong

  • Dilated Cardiomyopathy

    • Enlargement and weakening of the left ventricle not explained by coronary artery or valve disease; inherited forms involve TTN, LMNA, RBM20, FLNC, BAG3, DSP, MYH7, TNNT2, DES, PLN and many other genes, and include Barth syndrome and the Emery-Dreifuss muscular dystrophies.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      • On the ACMG secondary findings list
      What knowing changes

      Knowing a genetic cause supports earlier heart monitoring and family screening, and for genes with a high arrhythmia risk such as LMNA, FLNC and RBM20 it informs decisions about rhythm monitoring and implantable defibrillators.

  • Limb-Girdle Muscular Dystrophy

    • Limb-girdle Muscular Dystrophy is defined as a collection of numerous subtypes with differing inheritance patterns (with diagnostic sufficiency being varied too). Carriers of variants related to the condition should seek guidance from a muscular-skeletal specialist for a definitive diagnosis.

      • 3 GenCC submitters rate it definitive or strong

  • Lipodystrophy

    • Familial Partial Lipodystrophy, Dunnigan TypeAutosomal dominant

      Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.

      • 3 GenCC submitters rate it definitive or strong
    • Mandibuloacral DysplasiaAutosomal recessive

      Caused by variants in LMNA (type A) or ZMPSTE24 (type B), which cause underdevelopment of the jaw and collarbones, skin changes, fat loss and metabolic complications such as insulin resistance.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Knowing guides monitoring for diabetes, lipid and other complications.

    • Familial Partial Lipodystrophy

      Includes the LMNA (Dunnigan), PPARG, PLIN1, LIPE, AKT2, CAV1 and PLAAT3 forms, which cause loss of fat from the limbs and buttocks with insulin resistance, diabetes, high triglycerides and fatty liver.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing allows early screening and treatment of diabetes, triglycerides and liver disease, and in selected cases metreleptin.

Broader groupings

  • Charcot-Marie-Tooth Disease

    • One of 62 genes linked to it

      A group of inherited peripheral neuropathies causing progressive weakness and wasting of the distal muscles and loss of sensation, mainly in the feet and hands.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Genetic counseling, subtype-specific monitoring, physical therapy, orthotics, neurotoxic drug avoidance, gene-specific clinical trials, surveillance for associated features

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How LMNA is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
  • Variants with a page
Chromosome 1, with a bracket where LMNA sits. LMNA and 33 genes near it on chromosome 1, from 155,627,396 to 156,627,395.Chromosome 11q22p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q44155.8 Mb156 Mb156.2 Mb156.4 Mb156.6 Mb: 155,626,755–155,648,640, reverse strandYY1AP1: 155,659,446–155,689,334, reverse strandYY1AP1DAP3: 155,687,833–155,740,132, forward strandDAP3GON4L: 155,749,659–155,859,439, reverse strandGON4LSYT11: 155,859,449–155,885,199, forward strandSYT11RIT1: 155,897,808–155,911,408, reverse strandRIT1KHDC4: 155,913,043–155,934,416, reverse strandKHDC4RXFP4: 155,941,638–155,943,087, forward strandRXFP4ARHGEF2: 155,944,685–156,007,070, reverse strandARHGEF2SSR2: 156,009,041–156,020,972, reverse strandSSR2UBQLN4: 156,026,961–156,053,814, reverse strandUBQLN4LAMTOR2: 156,053,916–156,058,817, forward strandLAMTOR2RAB25: 156,061,147–156,070,514, forward strandRAB25MEX3A: 156,072,013–156,082,465, reverse strandMEX3ALMNA: 156,114,711–156,140,081, forward strandLMNASEMA4A: 156,147,366–156,178,869, forward strandSEMA4ASLC25A44: 156,193,932–156,212,796, forward strandSLC25A44PMF1-BGLAP: 156,212,982–156,243,332, forward strandPMF1-BGLAPPMF1: 156,212,989–156,240,585, forward strandPMF1BGLAP: 156,242,154–156,243,317, forward strandBGLAPPAQR6: 156,243,318–156,248,647, reverse strandSMG5: 156,249,223–156,282,862, reverse strandTMEM79: 156,282,928–156,293,185, forward strandTMEM79GLMP: 156,290,088–156,295,699, reverse strandGLMPVHLL: 156,298,624–156,299,307, reverse strandVHLLCCT3: 156,308,792–156,367,873, reverse strandCCT3TSACC: 156,337,314–156,347,019, forward strandTSACCRHBG: 156,369,015–156,385,221, forward strandRHBGMEF2D: 156,463,727–156,501,266, reverse strandMEF2DIQGAP3: 156,525,405–156,572,604, reverse strandIQGAP3TTC24: 156,579,723–156,587,719, forward strandTTC24NAXE: 156,591,738–156,609,507, forward strandNAXEGPATCH4: 156,594,301–156,601,496, reverse strandGPATCH4HAPLN2: 156,619,331–156,626,590, forward strandHAPLN2Diagram of LMNA: 12 exons on the forward strand of chromosome 1Exon 1: 99 known disease-causing sitesExon 2: 26 known disease-causing sitesExon 3: 28 known disease-causing sitesExon 4: 44 known disease-causing sitesExon 5: 27 known disease-causing sitesExon 6: 63 known disease-causing sitesExon 7: 40 known disease-causing sitesExon 8: 18 known disease-causing sitesExon 9: 28 known disease-causing sitesExon 10: 8 known disease-causing sitesExon 11: 14 known disease-causing sitesExon 1: 156,114,711–156,115,274, 564 bases. 1 variant with a page in exon 1. List themExon 2: 156,130,617–156,130,773, 157 bases. 1 variant with a page in exon 2. List themExon 3: 156,134,403–156,134,528, 126 bases. 1 variant with a page in exon 3. List themExon 4: 156,134,805–156,134,975, 171 bases. 5 variants with a page in exon 4. List themExon 5: 156,135,187–156,135,312, 126 bases. 1 variant with a page in exon 5. List themExon 6: 156,135,901–156,136,121, 221 bases. 9 variants with a page in exon 6. List themExon 7: 156,136,214–156,136,436, 223 bases. 1 variant with a page in exon 7. List themExon 8: 156,136,921–156,137,028, 108 bases. 3 variants with a page in exon 8. List themExon 9: 156,137,113–156,137,232, 120 bases. 3 variants with a page in exon 9. List themExon 10: 156,137,654–156,137,743, 90 bases. 2 variants with a page in exon 10. List themExon 11: 156,138,488–156,138,757, 270 bases. 4 variants with a page in exon 11. List themExon 12: 156,139,080–156,140,081, 1,002 bases1246810125′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 3.2 kb of the gene's 25.4 kb; 1,995 of those bases code for the protein.

How a genome test reads LMNA

440

positions in LMNA where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 25.4 kb of LMNA, introns included, not only the 3.2 kb of exons.

Variants with a page (34)

The LMNA variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

VariantHGVS c.Exon or intronPosition (GRCh38)ClinVar classificationReview status
A242Vc.725C>TExon 4156,134,890Pathogenic/likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.768G>AExon 4156,134,933Pathogenic/likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.1157+2T>AIntron 6156,136,123Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.1608+1G>AIntron 9156,137,233Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.1698+13C>AIntron 10156,137,756Likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
E161Kc.481G>AExon 2156,130,741Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
E317Kc.949G>AExon 6156,135,913Pathogenic/likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
E358Kc.1072G>AExon 6156,136,036Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
R62Gc.184C>GExon 1156,115,102Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
R190Qc.569G>AExon 3156,134,458Pathogenic/likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts

See all 34 LMNA variants →

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). LMNA gene: lamin A/C. Retrieved 16 October 2026, from https://dantelabs.com/genes/lmna

Vancouver

Dante Labs. LMNA gene: lamin A/C [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/lmna

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