NPC1L1 I1233N - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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Curation:
Currentness:

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 -
 

Impact

Insufficiently evaluated pharmacogenetic

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

Inheritance pattern

unknown

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)

Publications
 

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.

 

Genomes
 

 

Other external references
 

    dbSNP
  • rs52815063
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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