NPY L7P - GET-Evidence

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

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Curation:
Currentness:

NPY L7P

(NPY Leu7Pro)


Short summary

 

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

  • C @ chr7:24324879: 2.8% (297/10758) in EVS
  • C @ chr7:24291403: 2.3% (3/128) in GET-Evidence
  • Frequency shown in summary reports: 2.8% (297/10758)

Publications
 

Kallio J, Pesonen U, Jaakkola U, Karvonen MK, Helenius H, Koulu M. Changes in diurnal sympathoadrenal balance and pituitary hormone secretion in subjects with Leu7Pro polymorphism in the prepro-neuropeptide Y. J Clin Endocrinol Metab. 2003 Jul;88(7):3278-83. PubMed PMID: 12843176.

 

Pesonen U. NPY L7P polymorphism and metabolic diseases. Regul Pept. 2008 Aug 7;149(1-3):51-5. Epub 2008 Apr 3. Review. PubMed PMID: 18499283.

 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het C @ chr7:24324879

 

 

GS06994 - var-GS06994-1100-36-ASM
het C @ chr7:24291404

 

GS12004 - var-GS12004-1100-36-ASM
het C @ chr7:24291404

 

NA12878

 

Other external references
 

    dbSNP
  • rs16139
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [Myocardial Infarction]
    This non-synonymous variant in the NYP gene was associate with several conditions and diseases in several studies. In obese adults the variant was associates with higher serum levels of total and LDL cholesterol, or in hypertensive subjects with increased risk for myocardial infarction and stroke.The carrier frequency of P7 allele varies from 6% to 15% in the Caucasian populations, and it seems to be totally absent or extremely low in oriental populations.
    www.ncbi.nlm.nih.gov/pubmed/15201542; PubMed ID:18499283; PubMed ID:9846584
    PolyPhen-2
  • Score: 0.137 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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