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Variant (rsID / SNP)

rs1399689294

LDLR

rs1399689294 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LDLR. Location: chromosome 19, position 11,240,247. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

LDLRConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
19:11240247
Cytoband
19p13.2
HGVS
NM_000527.5(LDLR):c.2448G>C (p.Lys816Asn)
Allele change
Missense_K638N

Associated conditions / phenotypes

Hypercholesterolemia, familial, 1|Familial hypercholesterolemia

Public references

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