ABCC8 V1572I - GET-Evidence

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

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Curation:
Currentness:

ABCC8 V1572I

(ABCC8 Val1572Ile)


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

  • 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
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr11:17414570

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
hom T @ chr11:17414570

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chr11:17414570

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chr11:17414570

 

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 = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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