SH2D1A Q58X - 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:

SH2D1A Q58X

(SH2D1A Gln58Stop)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(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
 

    GeneTests
  • GeneTests records for the SH2D1A gene
    Lymphoproliferative Disease, X-Linked
    SH2D1A-Related Lymphoproliferative Disease, X-Linked
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SH2D1A
    Web search results (3 hits -- see all)
  • SH2D1Abase: X-linked lymphoproliferative syndrome (XLP ...
    ... disease-causing mutation of RefTitle SH2D1A in a family with X-linked lymphoproliferative ... Rapid detection of intracellular SH2D1A protein in RefTitle cytotoxic lymphocytes ...
    bioinf.uta.fi/SH2D1Abase/index_SH2.php?content=pub/IDbases
  • SAPbase
    ID Q58X(1); standard; MUTATION; Accession A0005. Original code T. Description point ... RefTitle SH2D1A, In Five Patients with X-Linked Lymphoproliferative ...
    protein.uta.fi/SAPbase/SAPbase.html

Other in silico analyses
 

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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