TPO T725P - GET-Evidence

About Genomes Guides Recent changes Contributors Download

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

(See the latest version)

TPO T725P

(TPO Thr725Pro)


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

  • C @ chr2:1499927: 47.0% (5052/10758) in EVS
  • C @ chr2:1478933: 49.2% (61/124) in GET-Evidence
  • Frequency shown in summary reports: 47.0% (5052/10758)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het C @ chr2:1499927

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het C @ chr2:1499927

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het C @ chr2:1499927

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom C @ chr2:1499927

 

hu728FFF - PGP11 (hu728FFF) build 36, substitution variants, hu728FFF build 36 substitution variants
het C @ chr2:1478934

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom C @ chr2:1499927

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het C @ chr2:1499927

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het C @ chr2:1499927

 

GS06994 - var-GS06994-1100-36-ASM
het C @ chr2:1478934

 

GS18501 - var-GS18501-1100-36-ASM
hom C @ chr2:1478934

 

GS18502 - var-GS18502-1100-36-ASM
hom C @ chr2:1478934

 

GS18504 - var-GS18504-1100-36-ASM
hom C @ chr2:1478934

 

GS18505 - var-GS18505-1100-36-ASM
het C @ chr2:1478934

 

GS18508 - var-GS18508-1100-36-ASM
hom C @ chr2:1478934

 

GS18517 - var-GS18517-1100-36-ASM
het C @ chr2:1478934

 

GS18526 - var-GS18526-1100-36-ASM
hom C @ chr2:1478934

 

GS18537 - var-GS18537-1100-36-ASM
het C @ chr2:1478934

 

GS18555 - var-GS18555-1100-36-ASM
hom C @ chr2:1478934

 

Added in this revision:

GS18558 - var-GS18558-1100-36-ASM
hom C @ chr2:1478934

 

NA07022

 

NA18507

 

NA18517

 

NA18555

 

NA18956

 

NA19129

 

NA19240

 

snp-2

 

snp-27

 

snp-28

 

snp-29

 

snp-3

 

snp-31

 

snp-6

 

Other external references
 

    dbSNP
  • rs732609
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (3 hits -- see all)
  • High prevalence of thyroid peroxidase gene mutations in ...
    Mutational analysis of the TPO gene and part of its promoter consisted of single ... TPO gene mutations are also infrequently reported in patients with milder ...
    www.eje-online.org/cgi/content/full/156/5/511
  • Yildiz, A (Akin)
    Yildiz, A (Akin) :: The effects of solid food in prevention of intestinal activity in Tc ... five patients, seven different previously known TPO polymorphisms were detected: ...
    lib.bioinfo.pl/auid:1994602
  • High prevalence of thyroid peroxidase gene mutations in ...
    Thyroid peroxidase gene (TPO) mutations are one of the most common causes of ... results showed a higher prevalence of TPO gene mutations in thyroid ...
    www.eje-online.org/cgi/reprint/156/5/511.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in



Data available under CC0. Web application © 2010-2014 Curoverse, Inc.