NPC1L1 I1233N - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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NPC1L1 I1233N

(NPC1L1 Ile1233Asn)

Short summary

Wang et al. find this variant along with another nonsynonymous variant compound heterozygously in a hyperlipidemic patient that did not respond to ezetimibe.

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated pharmacogenetic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • T @ chr7:44555699: 1.0% (106/10758) in EVS
  • Frequency shown in summary reports: 1.0% (106/10758)


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.




Other external references

  • rs52815063

Other in silico analyses

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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