Variant (rsID / SNP)

rs121908670

rs121908670 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRP5. Location: chromosome 11, position 68,131,252. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

LRP5Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:68131252
Cytoband: 11q13.2
HGVS: NM_002335.4(LRP5):c.724G>A (p.Ala242Thr)
Allele change: Missense_A242T

Associated conditions / phenotypes

Worth disease|Autosomal dominant osteopetrosis 1

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.