Variant (rsID / SNP)

rs2229466

rs2229466 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMB3. Location: chromosome 1, position 209,797,253. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

LAMB3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:209797253
Cytoband: 1q32.2
HGVS: NM_000228.3(LAMB3):c.2069A>G (p.Asn690Ser)
Allele change: Missense_N690S

Associated conditions / phenotypes

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

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.