Variant (rsID / SNP)
rs80356680
rs80356680 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMB3. Location: chromosome 1, position 209,823,368. Clinical significance in the table: Pathogenic.
Reference-table entries
LAMB3Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:209823368
- Cytoband
- 1q32.2
- HGVS
- NM_000228.3(LAMB3):c.124C>T (p.Arg42Ter)
- Allele change
- Nonsense_R42X
Associated conditions / phenotypes
Junctional 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
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.