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Variant (rsID / SNP)

rs147618989

LRP5

rs147618989 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRP5. Location: chromosome 11, position 68,216,333. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

LRP5Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:68216333
Cytoband
11q13.2
HGVS
NM_002335.4(LRP5):c.4643G>T (p.Cys1548Phe)
Allele change
Missense_C1548F

Associated conditions / phenotypes

Exudative vitreoretinopathy 4

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.