Variant (rsID / SNP)

rs750383461

rs750383461 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LDLRAP1. Location: chromosome 1, position 25,883,729. Clinical significance in the table: Pathogenic.

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Reference-table entries

LDLRAP1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Duplication
Chromosome / position: 1:25883729
Cytoband: 1p36.11
HGVS: NM_015627.3(LDLRAP1):c.431dup (p.His144fs)

Associated conditions / phenotypes

Hypercholesterolemia, familial, 4

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.