GALT Q169K - GET-Evidence

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

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(GALT Gln169Lys)

You are viewing the latest version of this page, saved on May 21, 2010 at 12:10am by Counsyl Test Importing Robot.

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Short summary


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


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • None available.



Other external references

  • Score: 0.999 (probably damaging)
    Web search results (10 hits -- see all)
  • Galactosemia
    Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: ... in the GALT gene, X380R, Y209S, E340K, L74fsdelCT, Q169K and L256/P257delGCC, were ...
  • ARUP Online Scientific Resource: GALT Database
    GALT Database Display Page. Select number of rows to display per page. Click the arrows to ... Q169K. University of Bristol, unpublished. IVS5. Mutation. Splice Site. c. ...
  • XML
    جهشهاي L195P، X380R و Q169K در هيچ يك از خانواده‌ها شناسايي نشد. ... of six common mutations in GALT gene including Q188R, K285N, S135L, L195P, X380R and Q169K by using PCR ...
  • journal of Rehabilitation- فصلنامه علمي پژوهشي توانبخشي -
    در مجموع 16 خانواده نقص در آنزيم GALT داشتند. سپس خانواده‌هايي كه گالاكتوزمي در آنها قطعي شده بود براي جهشهاي Q188R ، K285N، L195P ، X380R و Q169K ...
  • ESHG Posters 13
    Phenylketonuria In Iran, The First Report From The Historical City Of Isfahan ... (GALT)activity.The numerous point mutations have been identified in the GALT gene ...
  • Springer Professional Media, Bereich Medizin - Innere Medizin
    Springer Professional Media, Bereich Medizin - Interview: Thrombose-Rezidivrisiko einfach bestimmen

Other in silico analyses

  • NBLOSUM100 score = –2
  • GET-Evidence autoscore = 5

Edit history

Gene search

"GENE" or "GENE A123C":

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