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Variant profile

c.1421C>G

c.1421C>G · SaudiVarKB evidence summary derived from retained literature mentions.

1Variant mentions
1Publications
2Associated gene records
2Associated phenotype records

Associated gene records

Co-mentioned in the same publications
GeneIdentifier / contextArticlesMentions
LDLRHGNC:654711
EGFHGNC:322911

Associated phenotype records

Co-mentioned in the same publications
PhenotypeIdentifier / contextArticlesMentions
coronary artery disease11
familial hypercholesterolemiaHP:0003124 · 14389011

Associated population records

Co-mentioned in the same publications
PopulationIdentifier / contextArticlesMentions
Saudi Arabia11

Supporting publications

1 records
  1. 2022Identification of Novel and Known LDLR Variants Triggering Severe Familial Hypercholesterolemia in Saudi Families.Current vascular pharmacology1 mentions