AGT M268T - 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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AGT M268T

(AGT Met268Thr)


You are viewing an old version of this page that was saved on March 29, 2011 at 8:55pm 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

  • G @ chr1:230845794: 56.1% (6039/10758) in EVS
  • G @ chr1:228912416: 44.6% (33/74) in GET-Evidence
  • Frequency shown in summary reports: 56.1% (6039/10758)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het G @ chr1:230845794

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom G @ chr1:230845794

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het G @ chr1:230845794

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het G @ chr1:230845794

 

GS18555 - var-GS18555-1100-36-ASM
het G @ chr1:228912417

 

GS19020 - var-GS19020-1100-36-ASM
hom G @ chr1:228912417

 

GS19025 - var-GS19025-1100-36-ASM
hom G @ chr1:228912417

 

GS19026 - var-GS19026-1100-36-ASM
hom G @ chr1:228912417

 

GS19239 - var-GS19239-1100-36-ASM
hom G @ chr1:228912417

 

GS19240 - var-GS19240-1100-36-ASM
hom G @ chr1:228912417

 

GS19703 - var-GS19703-1100-36-ASM
hom G @ chr1:228912417

 

GS19735 - var-GS19735-1100-36-ASM
hom G @ chr1:228912417

 

GS19834 - var-GS19834-1100-36-ASM
het G @ chr1:228912417

 

Added in this revision:

GS20502 - var-GS20502-1100-36-ASM
het G @ chr1:228912417

 

NA12156

 

NA12878

 

NA18507

 

NA18517

 

NA18555

 

NA18956

 

NA19129

 

NA19240

 

snp-1

 

snp-18

 

snp-2

 

snp-27

 

snp-28

 

snp-29

 

snp-3

 

snp-30

 

snp-31

 

snp-5

 

Other external references
 

    dbSNP
  • rs699
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the AGT gene
    Cardiovascular Disease Risk Factor (Angiotensinogen)
    Hyperoxaluria, Primary, Type 1
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AGT
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (55 hits -- see all)
  • Association of Aldosterone Concentration and ...
    angiotensinogen (AGT) c. 6G>A and p.M268T and mineralocorticoid ... AGT p.M268T, and 61 C for AGT 6G>A), and. extension at 72 C for 1 minute, with a final ...
    array.bioengr.uic.edu/~yangdai/pub/Pharmacotherapy.pdf
  • BiomedExperts: Evaluation of angiotensinogen c.1-44G>A and p ...
    'Evaluation of angiotensinogen c.1-44G>A and p.M268T variants as risk factors for fibrosis progression in chronic hepatitis C and liver diseases of various ...
    biomedexperts.com/Abstract.bme/19473084/...
  • Angiotensin II Type 1 Receptor 1166C Polymorphism Is ...
    The AGT 268T allele appeared to have an epistatic effect on large aneurysm size. ... It should be noted that the AGT M268T SNP has previously been misdesignated M235> ...
    atvb.ahajournals.org/cgi/content/full/28/4/764
  • Genetics & Genomics - Study investigated role of ...
    NewsRx is the leading source of news and information on Genetics & Genomics ... angiotensinogen (AGT) carries two common polymorphisms, T207M4 and M268T (previously ...
    www.newsrx.com/article.php?articleID=245736
  • Genetic Analysis of the Angiotensinogen Gene in Pre-Eclampsia ...
    Karger is a medical publisher, scientific publisher and biomedical publisher of print and online journals and books.
    content.karger.com/produktedb/produkte.asp?doi=146084
  • AceView: Gene:AGT, a comprehensive annotation of human, mouse ...
    AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
    ncbi.nlm.nih.gov/IEB/Research/Acembly/...&a=clones&l=AGT
  • Association of aldosterone concentration and ...
    Association of aldosterone concentration and mineralocorticoid receptor genotype ... and angiotensinogen (AGT) c.-6G>A and p.M268T and mineralocorticoid receptor ...
    www.medscape.com/medline/abstract/20030467
  • Angiotensinogen gene polymophism predicts blood pressure ...
    Four SNPs, -6 A/G, T207M, M268T and C11537A, were selected based on the TagSNP ... a SNP in 3-UTR of the AGT gene is associated with DBP response to ...
    www.ashg.org/genetics/abstracts/abs06/f1735.htm
  • Medical University, Graz - Study investigated role of ...
    NewsRx is the leading source of news and information on Medical University, Graz ... The AGT Hap2 haplotype was significantly associated with angiotensinogen levels; one ...
    newsrx.com/newsletters/.../2005-07-12/0717200533323CVW.html
  • Fırat Tıp Dergisi
    Anjiyotensinojen için gen, AGT, iki yaygın tek nükleotid polimorfizmi ile karakterize olup T207M ve M268T'dir. ... PCR ile çoğaltılan AGT lokusuna ait fragman Nco1 restriksiyon ...
    www.firattipdergisi.com/text.php3?id=324

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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