Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.
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Wang et al. find this variant along with another nonsynonymous variant compound heterozygously in a hyperlipidemic patient that did not respond to ezetimibe.
Insufficiently evaluated pharmacogenetic
(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)
Summary of published research, and additional commentary
Wang J, Williams CM, Hegele RA. Compound heterozygosity for two non-synonymous
polymorphisms in NPC1L1 in a non-responder to ezetimibe. Clin Genet. 2005
Feb;67(2):175-7. PubMed PMID: 15679830.
huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het T @ chr7:44555699