Variant (rsID / SNP)

rs200300715

rs200300715 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMB3. Location: chromosome 1, position 209,799,354. Clinical significance in the table: Uncertain significance.

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Reference-table entries

LAMB3Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:209799354
Cytoband: 1q32.2
HGVS: NM_000228.3(LAMB3):c.1615C>T (p.Arg539Trp)
Allele change: Missense_R539W

Associated conditions / phenotypes

Junctional epidermolysis bullosa

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.