ABCC8 V1572I - GET-Evidence

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ABCC8 V1572I

(ABCC8 Val1572Ile)


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Allele frequency

  • T @ chr11:17414570: 5.5% (592/10758) in EVS
  • T @ chr11:17371145: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 5.5% (592/10758)

Publications
 

Genomes
 

Added in this revision:

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr11:17414570

 

Other external references
 

    dbSNP
  • rs8192690
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    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 (8 hits -- see all)
  • Hyperinsulinism Cell Biology - Study findings on ...
    NewsRx is the leading source of news and information on Hyperinsulinism Cell Biology ... reduction to hemizygosity of paternal ABCC8 in focal disease. V1572I is likely to be a ...
    www.newsrx.com/article.php?articleID=673010
  • Complex ABCC8 DNA variations in congenital hyperinsulinism ...
    Complex ABCC8 DNA variations in congenital hyperinsulinism: lessons from functional studies ... By contrast, V1572I is trafficked appropriately and is functional, ...
    www3.interscience.wiley.com/journal/117998336/abstract
  • Pharma DMET - SNPedia
    Pharma DMET. From SNPedia. Jump to: navigation, search. See also Pharma ADME ... A(R1268Q) noncore snp rs2238472 ABCC8 ABCC8_(HCV11654180) noncore snp ABCC8 ...
    www.snpedia.com/index.php/Pharma_DMET
  • Acute Insulin Responses to Calcium and Tolbutamide Do Not ...
    sulfonylurea receptor (ABCC8 or SUR1) or the inwardly. rectifying potassium channel ... association with a reduction to homozygosity of a mutation in ABCC8 ...
    jcem.endojournals.org/cgi/reprint/89/2/925.pdf
  • Muzyamba M. Complex ABCC8 DNA variations in congenital ...
    Muzyamba M. Complex ABCC8 DNA variations in congenital hyperinsulinism: lessons from ... By contrast, V1572I is trafficked appropriately and is functional, ...
    pubget.com/paper/17466004?title=Complex ABCC8 DNA variati...
  • sur1 abcc8-ion channel citations
    Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. ... V1572I is likely to be a benign DNA ... Mutations in the ABCC8 gene encoding the SUR1 ...
    www.ionchannels.org/showcitationlist.php?keyword=sur1+abcc8
  • complex abrogates-ion channel citations
    Complex ABCC8 DNA variations in congenital hyperinsulinism: lessons from functio ... By contrast, V1572I is trafficked appropriately and is ... us to unravel the DNA variants ...
    ionchannels.org/showcitationlist.php?...+abrogates
  • CHO cells: Topics by WorldWideScience.org
    Kunaparaju, Raj Kumar, Biotechnology & Biomolecular Sciences, Faculty of Science, ... The current project is to develop a transient expression system for Chinese ...
    worldwidescience.org/topicpages/c/CHO+cells.html

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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