Gene entry
LAMB3
laminin subunit beta 3
- Chromosome
- 1
- Cytoband
- 1q32.2
- Variants (rsID)
- 33
LAMB3 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1q32.2). Its official name is “laminin subunit beta 3”. The reference table lists 33 variants (rsID) for this gene.
Clinically classified variants
16 reference-table entries with clinical significance.
- rs2076222Benignsingle nucleotide variantJunctional epidermolysis bullosa|Junctional epidermolysis bullosa, non-Herlitz type|Amelogenesis imperfecta type 1A|Junctional epidermolysis bullosa gravis of Herlitz
- rs2076351Benignsingle nucleotide variantJunctional epidermolysis bullosa
- rs2229466Benignsingle nucleotide variantJunctional epidermolysis bullosa|Amelogenesis imperfecta type 1A|Junctional epidermolysis bullosa gravis of Herlitz|Junctional epidermolysis bullosa, non-Herlitz type
- rs2235542Benignsingle nucleotide variantJunctional epidermolysis bullosa
- rs52814161Benignsingle nucleotide variantJunctional epidermolysis bullosa|Junctional epidermolysis bullosa gravis of Herlitz
- rs55824996Benignsingle nucleotide variant
- rs763559509Conflicting interpretationsDeletionJunctional epidermolysis bullosa|Junctional epidermolysis bullosa gravis of Herlitz
- rs1057516241PathogenicMicrosatelliteJunctional epidermolysis bullosa gravis of Herlitz
- rs1057516486PathogenicDeletionJunctional epidermolysis bullosa gravis of Herlitz
- rs201551805Pathogenicsingle nucleotide variantJunctional epidermolysis bullosa gravis of Herlitz|Junctional epidermolysis bullosa, non-Herlitz type
- rs777292177PathogenicDeletionJunctional epidermolysis bullosa gravis of Herlitz
- rs80356680Pathogenicsingle nucleotide variantJunctional epidermolysis bullosa gravis of Herlitz|Junctional epidermolysis bullosa gravis of Herlitz|Junctional epidermolysis bullosa, non-Herlitz type|Amelogenesis imperfecta type 1A|Junctional epidermolysis bullosa, non-Herlitz type
- rs80356681Pathogenicsingle nucleotide variantJunctional epidermolysis bullosa gravis of Herlitz|Junctional epidermolysis bullosa
- rs80356682Pathogenicsingle nucleotide variantJunctional epidermolysis bullosa gravis of Herlitz|Junctional epidermolysis bullosa, non-Herlitz type|Amelogenesis imperfecta type 1A|Junctional epidermolysis bullosa gravis of Herlitz|Junctional epidermolysis bullosa, non-Herlitz type|Junctional epidermolysis bullosa
- rs114394307Uncertain significancesingle nucleotide variantJunctional epidermolysis bullosa
- rs200300715Uncertain significancesingle nucleotide variantJunctional epidermolysis bullosa
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.