Variant (rsID / SNP)

rs80358313

rs80358313 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRP5. Location: chromosome 11, position 68,174,018. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

LRP5Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:68174018
Cytoband: 11q13.2
HGVS: NM_002335.4(LRP5):c.1828G>A (p.Gly610Arg)
Allele change: Missense_G610R

Associated conditions / phenotypes

Exudative vitreoretinopathy 4, autosomal recessive

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.