Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs80356682

LAMB3

rs80356682 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMB3. Location: chromosome 1, position 209,799,066. Clinical significance in the table: Pathogenic.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

LAMB3Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
1:209799066
Cytoband
1q32.2
HGVS
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter)
Allele change
Nonsense_R635X

Associated conditions / phenotypes

Junctional epidermolysis bullosa gravis of Herlitz|Junctional epidermolysis bullosa, non-Herlitz type|Amelogenesis imperfecta type 1A|Junctional epidermolysis bullosa gravis of Herlitz|Junctional epidermolysis bullosa, non-Herlitz type|Junctional epidermolysis bullosa

Public references

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