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Variant (rsID / SNP)

rs41291054

LDLRAP1

rs41291054 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LDLRAP1. Location: chromosome 1, position 25,890,207. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

LDLRAP1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:25890207
Cytoband
1p36.11
HGVS
NM_015627.3(LDLRAP1):c.672C>T (p.Ser224=)
Allele change
Synonymous_S224S

Associated conditions / phenotypes

Hypercholesterolemia, familial, 4|Familial hypercholesterolemia

Public references

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