Variant (rsID / SNP)

rs52814161

rs52814161 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMB3. Location: chromosome 1, position 209,803,199. Clinical significance in the table: Benign.

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Reference-table entries

LAMB3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:209803199
Cytoband: 1q32.2
HGVS: NM_000228.3(LAMB3):c.1015T>C (p.Tyr339His)
Allele change: Missense_Y339H

Associated conditions / phenotypes

Junctional epidermolysis bullosa|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.