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Gene profile

LDLRAP1

HGNC:18640 · SaudiVarKB evidence summary derived from retained literature mentions.

2Gene mentions
2Publications
0Linked variants
2Associated phenotypes

Associated phenotypes

Co-mentioned in LDLRAP1 publications
PhenotypeIdentifierArticlesMentions
familial hypercholesterolemiaHP:000312422
coronary artery disease11

Linked variants

Variants normalized to LDLRAP1
VariantHGVS / rsIDArticlesMentions

No normalized variants are linked to this gene.

Population context

Reported in the same publications
Country / regionGroupCohortArticles
Saudi Arabia1

Supporting publications

2 records
  1. 2020Molecular insights into the coding region mutations of low-density lipoprotein receptor adaptor protein 1 (LDLRAP1) linked to familial hypercholesterolemia.The journal of gene medicinePubMed ↗
  2. 2018Novel combined variants of LDLR and LDLRAP1 genes causing severe familial hypercholesterolemia.AtherosclerosisPubMed ↗