ABCC8 A1369S - GET-Evidence

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

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Curation:
Currentness:

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ABCC8 A1369S

(ABCC8 Ala1369Ser)


You are viewing an old version of this page that was saved on December 27, 2009 at 4:09pm by Genome Importing Robot.

Short summary

 

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

Impact

Insufficiently evaluated not reviewed

(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

  • A @ chr11:17418477: 73.9% (7947/10758) in EVS
  • A @ chr11:17375052: 70.3% (90/128) in GET-Evidence
  • Frequency shown in summary reports: 73.9% (7947/10758)

Publications
 

Genomes
 

NA12878

 

NA18517

 

NA18956

 

NA19129

 

NA19240

 

snp-1

 

snp-2

 

Added in this revision:

snp-3

 

Other external references
 

    GeneTests
  • GeneTests records for the ABCC8 gene
    ABCC8-Related Hyperinsulinism
    ABCC8-Related Permanent Neonatal Diabetes Mellitus
    ABCC8-Related Transient Neonatal Diabetes Mellitus 2
    Familial Hyperinsulinism
    Permanent Neonatal Diabetes Mellitus
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ABCC8
    Web search results (181 hits -- see all)
  • Type 2 Diabetes–Associated Missense Polymorphisms KCNJ11 E23K ...
    ... Associated Missense Polymorphisms KCNJ11 E23K and ABCC8 A1369S Influence Progression to Diabetes and Response ... KCNJ11 E23K and ABCC8 A1369S have been consistently associated ...
    diabetes.diabetesjournals.org/content/56/2/531.abstract
  • Type 2 Diabetes–Associated Missense Polymorphisms KCNJ11 E23K ...
    Results for ABCC8 A1369S were essentially identical to those for KCNJ11 E23K. ... carry the alanine allele at ABCC8 A1369S, and it remains possible that either ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2267937
  • Brief Report
    A1369S, as both are highly correlated) influences diabetes incidence, ... findings in carriers of the alanine allele at ABCC8 A1369S. were essentially the same as those for lysine ...
    diabetes.diabetesjournals.org/content/56/2/531.full.pdf
  • Our Faculty | School of Public Health and Health Services ...
    Kathleen Jablonski is an Assistant Research Professor in the Department of ... ABCC8 A1369S influence progression to diabetes and response to interventions in ...
    www.gwumc.edu/sphhs/faculty/index.cfm?employeeID=603
  • BioMed Central | Full text | Genome-wide association with ...
    We found 6 SNPs in or near ABCC8, but no SNPs in strong LD with ABCC8 A1369S (rs757110) or KCNJ11 E23K (rs5219), and thus could not replicate these associations. ...
    www.biomedcentral.com/1471-2350/8/S1/S16
  • BioPortfolio - abcc8
    abcc8 - BioPortfolio ... Results for ABCC8 A1369S were essentially identical to those for KCNJ11 E23K. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2267937 ...
    www.bioportfolio.com/search/abcc8.html
  • BADERC-Jose C. Florez
    With regard to the former, he is involved in the conduct, analysis and ... polymorphisms KCNJ11 E23K and ABCC8 A1369S influence progression to diabetes and ...
    www.baderc.org/members/JoseFlorez.html
  • Genome-wide association with diabetes-related traits in the ...
    We found 6 SNPs in or near ABCC8, but no SNPs in strong LD with ABCC8 A1369S (rs757110) or KCNJ11 E23K (rs5219), and thus could not replicate these associations. ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1995610
  • Welcome to the Center For Human Genetic Research at ...
    Some of the genes associated with the disease have been shown to affect hormonal ... missense polymorphisms KCNJ11 E23K and ABCC8 A1369S influence progression to diabetes and ...
    www2.massgeneral.org/chgr/SUGARMGH.htm
  • European Journal of Human Genetics - Relationship between ...
    The European Journal of Human Genetics is the official Journal of the European Society of Human Genetics, publishing high-quality, original research papers, short ...
    www.nature.com/ejhg/journal/v15/n6/full/5201802a.html

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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