Variant (rsID / SNP)

rs121918313

rs121918313 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRP6. Location: chromosome 12, position 12,317,428. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

LRP6Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:12317428
Cytoband: 12p13.2
HGVS: NM_002336.3(LRP6):c.1831C>T (p.Arg611Cys)
Allele change: Missense_R611C

Associated conditions / phenotypes

Coronary artery disease, autosomal dominant 2

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.