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Variant (rsID / SNP)

rs80356681

LAMB3

rs80356681 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMB3. Location: chromosome 1, position 209,806,023. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

LAMB3Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
1:209806023
Cytoband
1q32.2
HGVS
NM_000228.3(LAMB3):c.727C>T (p.Gln243Ter)
Allele change
Nonsense_Q243X

Associated conditions / phenotypes

Junctional epidermolysis bullosa gravis of Herlitz|Junctional epidermolysis bullosa

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.