TXNDC2 E341K - 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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TXNDC2 E341K

(TXNDC2 Glu341Lys)


You are viewing an old version of this page that was saved on December 8, 2010 at 12:46am 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

  • A @ chr18:9887497: 71.3% (7673/10758) in EVS
  • Frequency shown in summary reports: 71.3% (7673/10758)

Publications
 

Genomes
 

hu04FD18

 

hu3215A7

 

hu604D39

 

hu728FFF - PGP11 (hu728FFF) build 36, substitution variants
hom A @ chr18:9877497

 

hu9385BA

 

huAE6220

 

huBEDA0B

 

huC30901

 

huE80E3D

 

NA12156

 

NA12878

 

NA18507

 

NA18517

 

NA18555

 

NA18956

 

NA19129

 

NA19240

 

snp-1

 

snp-2

 

snp-26

 

Deleted in this revision:

snp-26

 

snp-27

 

snp-28

 

snp-3

 

snp-32

 

Other external references
 

    dbSNP
  • rs11081510
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.019 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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