Variant (rsID / SNP)

rs1057516486

rs1057516486 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMB3. Location: chromosome 1, position 209,796,862. 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: Deletion
Chromosome / position: 1:209796862
Cytoband: 1q32.2
HGVS: NM_000228.3(LAMB3):c.2346del (p.Thr783fs)

Associated conditions / phenotypes

Junctional epidermolysis bullosa gravis of Herlitz

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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