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Variant profile

p.D445*

p.D445* · SaudiVarKB evidence summary derived from retained literature mentions.

1Variant mentions
1Publications
1Associated gene records
1Associated phenotype records

Associated gene records

Co-mentioned in the same publications
GeneIdentifier / contextArticlesMentions
LDLRHGNC:654711

Associated phenotype records

Co-mentioned in the same publications
PhenotypeIdentifier / contextArticlesMentions
familial hypercholesterolemiaHP:0003124 · 14389011

Associated population records

Co-mentioned in the same publications

No retained population associations.

Supporting publications

1 records
  1. 2014Identification of a novel nonsense variant c.1332dup, p.(D445*) in the LDLR gene that causes familial hypercholesterolemia.Human genome variationPubMed ↗