Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

PLEC

plectin

Chromosome
8
Cytoband
8q24.3
Variants (rsID)
46

PLEC is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 8 (region 8q24.3). Its official name is “plectin”. The reference table lists 46 variants (rsID) for this gene.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Clinically classified variants

37 reference-table entries with clinical significance.

  • rs113513807Benignsingle nucleotide variantEpidermolysis bullosa simplex 5C, with pyloric atresia|Epidermolysis bullosa simplex 5B, with muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2Q|Epidermolysis bullosa simplex, Ogna type|Epidermolysis bullosa simplex with nail dystrophy
  • rs12545876Benignsingle nucleotide variantEpidermolysis bullosa simplex 5C, with pyloric atresia|Autosomal recessive limb-girdle muscular dystrophy type 2Q|Epidermolysis bullosa simplex, Ogna type|Epidermolysis bullosa simplex with nail dystrophy|Epidermolysis bullosa simplex 5B, with muscular dystrophy
  • rs151022876Benignsingle nucleotide variantEpidermolysis bullosa simplex, Ogna type|Epidermolysis bullosa simplex 5C, with pyloric atresia|Autosomal recessive limb-girdle muscular dystrophy type 2Q|Epidermolysis bullosa simplex 5B, with muscular dystrophy|Epidermolysis bullosa simplex with nail dystrophy
  • rs186670912Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2Q|Epidermolysis bullosa simplex 5B, with muscular dystrophy|Epidermolysis bullosa simplex 5C, with pyloric atresia|Epidermolysis bullosa simplex with nail dystrophy|Epidermolysis bullosa simplex, Ogna type
  • rs187338487Benignsingle nucleotide variantEpidermolysis bullosa simplex, Ogna type|Epidermolysis bullosa simplex with nail dystrophy|Epidermolysis bullosa simplex 5B, with muscular dystrophy|Epidermolysis bullosa simplex 5C, with pyloric atresia|Autosomal recessive limb-girdle muscular dystrophy type 2Q
  • rs200061415Benignsingle nucleotide variantEpidermolysis bullosa simplex, Ogna type|Epidermolysis bullosa simplex 5C, with pyloric atresia|Autosomal recessive limb-girdle muscular dystrophy type 2Q|Epidermolysis bullosa simplex 5B, with muscular dystrophy|Epidermolysis bullosa simplex with nail dystrophy
  • rs3135103Benignsingle nucleotide variantEpidermolysis bullosa simplex 5C, with pyloric atresia|Epidermolysis bullosa simplex 5B, with muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2Q|Epidermolysis bullosa simplex, Ogna type|Epidermolysis bullosa simplex with nail dystrophy
  • rs34803322Benignsingle nucleotide variantEpidermolysis bullosa simplex 5C, with pyloric atresia|Autosomal recessive limb-girdle muscular dystrophy type 2Q|Epidermolysis bullosa simplex, Ogna type|Epidermolysis bullosa simplex with nail dystrophy|Epidermolysis bullosa simplex 5B, with muscular dystrophy
  • rs35134741Benignsingle nucleotide variantEpidermolysis bullosa simplex 5C, with pyloric atresia|Epidermolysis bullosa simplex 5B, with muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2Q|Epidermolysis bullosa simplex, Ogna type|Epidermolysis bullosa simplex with nail dystrophy
  • rs35723243Benignsingle nucleotide variantEpidermolysis bullosa simplex 5C, with pyloric atresia|Epidermolysis bullosa simplex 5B, with muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2Q|Epidermolysis bullosa simplex, Ogna type|Epidermolysis bullosa simplex with nail dystrophy
  • rs55895668Benignsingle nucleotide variantEpidermolysis bullosa simplex 5C, with pyloric atresia|Epidermolysis bullosa simplex 5B, with muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2Q|Epidermolysis bullosa simplex, Ogna type|Epidermolysis bullosa simplex with nail dystrophy|Epidermolysis bullosa simplex 5B, with muscular dystrophy|Epidermolysis bullosa simplex 5C, with pyloric atresia|Autosomal recessive limb-girdle muscular dystrophy type 2Q|Epidermolysis bullosa simplex with nail dystrophy|Epidermolysis bullosa simplex, Ogna type
  • rs7014582Benignsingle nucleotide variantEpidermolysis bullosa simplex 5C, with pyloric atresia|Autosomal recessive limb-girdle muscular dystrophy type 2Q|Epidermolysis bullosa simplex, Ogna type|Epidermolysis bullosa simplex with nail dystrophy|Epidermolysis bullosa simplex 5B, with muscular dystrophy|Epidermolysis bullosa simplex with nail dystrophy|Epidermolysis bullosa simplex 5B, with muscular dystrophy|Epidermolysis bullosa simplex, Ogna type|Epidermolysis bullosa simplex 5C, with pyloric atresia|Autosomal recessive limb-girdle muscular dystrophy type 2Q
  • rs75586449Benignsingle nucleotide variantEpidermolysis bullosa simplex 5C, with pyloric atresia|Autosomal recessive limb-girdle muscular dystrophy type 2Q|Epidermolysis bullosa simplex, Ogna type|Epidermolysis bullosa simplex with nail dystrophy|Epidermolysis bullosa simplex 5B, with muscular dystrophy
  • rs144242254Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2Q|Epidermolysis bullosa simplex 5B, with muscular dystrophy|Epidermolysis bullosa simplex 5C, with pyloric atresia|Epidermolysis bullosa simplex with nail dystrophy|Epidermolysis bullosa simplex, Ogna type
  • rs185022156Conflicting interpretationssingle nucleotide variantEpidermolysis bullosa simplex, Ogna type|Epidermolysis bullosa simplex 5C, with pyloric atresia|Epidermolysis bullosa simplex 5B, with muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2Q|Epidermolysis bullosa simplex with nail dystrophy
  • rs187648086Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2Q|Epidermolysis bullosa simplex 5B, with muscular dystrophy|Epidermolysis bullosa simplex 5C, with pyloric atresia|Epidermolysis bullosa simplex with nail dystrophy|Epidermolysis bullosa simplex, Ogna type
  • rs193257576Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2Q|Epidermolysis bullosa simplex 5B, with muscular dystrophy|Epidermolysis bullosa simplex 5C, with pyloric atresia|Epidermolysis bullosa simplex with nail dystrophy|Epidermolysis bullosa simplex, Ogna type
  • rs200239963Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 1|Epidermolysis bullosa simplex, Ogna type|Epidermolysis bullosa simplex 5C, with pyloric atresia|Autosomal recessive limb-girdle muscular dystrophy type 2Q|Epidermolysis bullosa simplex 5B, with muscular dystrophy|Epidermolysis bullosa simplex with nail dystrophy
  • rs200589588Conflicting interpretationssingle nucleotide variantEpidermolysis bullosa simplex, Ogna type|Epidermolysis bullosa simplex with nail dystrophy|Epidermolysis bullosa simplex 5B, with muscular dystrophy|Epidermolysis bullosa simplex 5C, with pyloric atresia|Autosomal recessive limb-girdle muscular dystrophy type 2Q
  • rs200898220Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2Q|Epidermolysis bullosa simplex 5B, with muscular dystrophy|Epidermolysis bullosa simplex 5C, with pyloric atresia|Epidermolysis bullosa simplex with nail dystrophy|Epidermolysis bullosa simplex, Ogna type
  • rs201688261Conflicting interpretationssingle nucleotide variantEpidermolysis bullosa simplex, Ogna type|Epidermolysis bullosa simplex with nail dystrophy|Epidermolysis bullosa simplex 5B, with muscular dystrophy|Epidermolysis bullosa simplex 5C, with pyloric atresia|Autosomal recessive limb-girdle muscular dystrophy type 2Q
  • rs201818691Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2Q|Epidermolysis bullosa simplex 5B, with muscular dystrophy|Epidermolysis bullosa simplex 5C, with pyloric atresia|Epidermolysis bullosa simplex with nail dystrophy|Epidermolysis bullosa simplex, Ogna type
  • rs202116866Conflicting interpretationssingle nucleotide variantEpidermolysis bullosa simplex 5C, with pyloric atresia|Epidermolysis bullosa simplex 5B, with muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2Q|Epidermolysis bullosa simplex, Ogna type|Epidermolysis bullosa simplex with nail dystrophy
  • rs34132016Conflicting interpretationssingle nucleotide variantEpidermolysis bullosa simplex 5B, with muscular dystrophy|Epidermolysis bullosa simplex with nail dystrophy|Epidermolysis bullosa simplex 5C, with pyloric atresia|Epidermolysis bullosa simplex, Ogna type|Autosomal recessive limb-girdle muscular dystrophy type 2Q
  • rs370313601Conflicting interpretationssingle nucleotide variantEpidermolysis bullosa simplex, Ogna type|Epidermolysis bullosa simplex with nail dystrophy|Epidermolysis bullosa simplex 5B, with muscular dystrophy|Epidermolysis bullosa simplex 5C, with pyloric atresia|Autosomal recessive limb-girdle muscular dystrophy type 2Q
  • rs372840016Conflicting interpretationssingle nucleotide variantEpidermolysis bullosa simplex, Ogna type|Epidermolysis bullosa simplex with nail dystrophy|Epidermolysis bullosa simplex 5B, with muscular dystrophy|Epidermolysis bullosa simplex 5C, with pyloric atresia|Autosomal recessive limb-girdle muscular dystrophy type 2Q
  • rs373922545Conflicting interpretationssingle nucleotide variantEpidermolysis bullosa simplex, Ogna type|Epidermolysis bullosa simplex 5C, with pyloric atresia|Autosomal recessive limb-girdle muscular dystrophy type 2Q|Epidermolysis bullosa simplex 5B, with muscular dystrophy|Epidermolysis bullosa simplex with nail dystrophy
  • rs375587611Conflicting interpretationssingle nucleotide variantEpidermolysis bullosa simplex, Ogna type|Epidermolysis bullosa simplex 5C, with pyloric atresia|Autosomal recessive limb-girdle muscular dystrophy type 2Q|Epidermolysis bullosa simplex 5B, with muscular dystrophy|Epidermolysis bullosa simplex with nail dystrophy
  • rs376112916Conflicting interpretationssingle nucleotide variantEpidermolysis bullosa simplex 5C, with pyloric atresia|Epidermolysis bullosa simplex with nail dystrophy|Epidermolysis bullosa simplex 5B, with muscular dystrophy|Epidermolysis bullosa simplex, Ogna type|Autosomal recessive limb-girdle muscular dystrophy type 2Q
  • rs563719398Conflicting interpretationssingle nucleotide variantEpidermolysis bullosa simplex, Ogna type|Epidermolysis bullosa simplex 5C, with pyloric atresia|Autosomal recessive limb-girdle muscular dystrophy type 2Q|Epidermolysis bullosa simplex 5B, with muscular dystrophy|Epidermolysis bullosa simplex with nail dystrophy
  • rs564245730Conflicting interpretationssingle nucleotide variantEpidermolysis bullosa simplex, Ogna type|Epidermolysis bullosa simplex with nail dystrophy|Epidermolysis bullosa simplex 5B, with muscular dystrophy|Epidermolysis bullosa simplex 5C, with pyloric atresia|Autosomal recessive limb-girdle muscular dystrophy type 2Q
  • rs576688705Conflicting interpretationssingle nucleotide variantEpidermolysis bullosa simplex, Ogna type|Epidermolysis bullosa simplex with nail dystrophy|Epidermolysis bullosa simplex 5B, with muscular dystrophy|Epidermolysis bullosa simplex 5C, with pyloric atresia|Autosomal recessive limb-girdle muscular dystrophy type 2Q
  • rs781998103Conflicting interpretationssingle nucleotide variantEpidermolysis bullosa simplex, Ogna type|Epidermolysis bullosa simplex 5C, with pyloric atresia|Epidermolysis bullosa simplex 5B, with muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2Q|Epidermolysis bullosa simplex with nail dystrophy
  • rs782437578Conflicting interpretationssingle nucleotide variantEpidermolysis bullosa simplex, Ogna type|Epidermolysis bullosa simplex 5C, with pyloric atresia|Epidermolysis bullosa simplex 5B, with muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2Q|Epidermolysis bullosa simplex with nail dystrophy
  • rs782581005Conflicting interpretationssingle nucleotide variantEpidermolysis bullosa simplex, Ogna type|Epidermolysis bullosa simplex 5C, with pyloric atresia|Autosomal recessive limb-girdle muscular dystrophy type 2Q|Epidermolysis bullosa simplex 5B, with muscular dystrophy|Epidermolysis bullosa simplex with nail dystrophy
  • rs782728053Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2Q|Epidermolysis bullosa simplex 5B, with muscular dystrophy|Epidermolysis bullosa simplex 5C, with pyloric atresia|Epidermolysis bullosa simplex with nail dystrophy|Epidermolysis bullosa simplex, Ogna type
  • rs377610697Uncertain significancesingle nucleotide variant

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.