Variant (rsID / SNP)

rs139043074

rs139043074 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMC2. Location: chromosome 1, position 183,209,311. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

LAMC2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:183209311
Cytoband: 1q25.3
HGVS: NM_005562.3(LAMC2):c.3206C>T (p.Thr1069Met)
Allele change: Missense_T1069M

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.