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Curation:

Currentness:

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ABCC8 V1572I

(ABCC8 Val1572Ile)

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Variant evidence
Computational		-

Functional		-

Case/Control		-

Familial		-


Clinical importance
Severity		-

Treatability		-

Penetrance		-

Insufficiently evaluated not reviewed

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

unknown

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:

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

Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_D01 from PGP sample 31286272 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_C02 from PGP sample 10366372 view
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_G01_200_37 view
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_E01_200_37 view
Feb 26 2010 Genome Importing Robot added variant view
Feb 26 2010 Genome Importing Robot added CGI sample GS00253-DNA_D01_200_37 view

ABCC8 V1572I - GET-Evidence