ZNF268 T175M - 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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ZNF268 T175M

(ZNF268 Thr175Met)


You are viewing an old version of this page that was saved on November 29, 2012 at 5:10am 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

  • T @ chr12:133778796: 35.1% (3382/9626) in EVS
  • Frequency shown in summary reports: 35.1% (3382/9626)

Publications
 

Genomes
 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het T @ chr12:133778796

 

Added in this revision:

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het T @ chr12:133778796

 

hu728FFF - PGP11 (hu728FFF) build 36, substitution variants
hom T @ chr12:132288869

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chr12:133778796

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
hom T @ chr12:133778796

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het T @ chr12:133778796

 

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het T @ chr12:133778796

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
hom T @ chr12:133778796

 

Other external references
 

    dbSNP
  • rs7975069
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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