Variant (rsID / SNP)

rs4988321

rs4988321 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRP5. Location: chromosome 11, position 68,174,189. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

LRP5Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:68174189
Cytoband: 11q13.2
HGVS: NM_002335.4(LRP5):c.1999G>A (p.Val667Met)
Allele change: Missense_V667M

Associated conditions / phenotypes

Osteoporosis with pseudoglioma|Increased bone mineral density|Osteogenesis imperfecta

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.