STAT5B M1T - GET-Evidence

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:

STAT5B M1T

(STAT5B Met1Thr)


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

  • None available.

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.991 (probably damaging)
    Web search results (2 hits -- see all)
  • BTKbase: X-linked agammaglobulinemia (XLA) | Public Database |
    ... 2 Family history Inherited IgA ID M1T(1); standard; MUTATION; PH Accession A0009 Original ... De novo IgA nd IgG 0.21 IgM 0.36 B cells surf Ig ID M1T(2a); standard; MUTATION; ...
    bioinf.uta.fi/BTKbase/index_SH2.php?content=pub/IDbases
  • The Bioinf Web Site Report for Year 2004
    Remember that each page hit can result in several server requests as ... xml/fetch.xml?gene=BTK&view=brief&mut=M1T&ac=A0009+A0267+A0268+A0269+A0270+A0347 ...
    bioinf.uta.fi/wwwlog/2004/bioinf2004.html

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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