Variant (rsID / SNP)

rs201320326

rs201320326 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRP5. Location: chromosome 11, position 68,153,967. Clinical significance in the table: Uncertain significance.

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Reference-table entries

LRP5Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:68153967
Cytoband: 11q13.2
HGVS: NM_002335.4(LRP5):c.1199C>T (p.Ala400Val)
Allele change: Missense_A400V

Associated conditions / phenotypes

Inborn genetic diseases|9 conditions

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.