Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs77331026

LAMA3

rs77331026 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMA3. Location: chromosome 18, position 21,437,917. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

LAMA3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
18:21437917
Cytoband
18q11.2
HGVS
NM_198129.4(LAMA3):c.4246G>A (p.Val1416Met)
Allele change
Missense_V1416M

Associated conditions / phenotypes

Junctional epidermolysis bullosa, non-Herlitz type

Public references

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