AKR1C3 C145Y - 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.

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AKR1C3 C145Y

(AKR1C3 Cys145Tyr)

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

    Web search results (2 hits -- see all)
  • AKR Superfamily || Single Nucleotide Polymorphisms
    AKR1C3*1C. 3. rs1804061. syn. A117G. K39. 11/7/00. AKR1C3*1D. 6. rs1937839. syn. G459A. K153 ... AKR1C3*8. 5. rs28943579. nonsyn. G434A. C145Y. 5/19/05. AKR1C3*9. 8 ...
  • omega data
    ... ENST00000380554 0.4965 p>0.05 0.447 rs28943579 10 5131058 NON_SYNONYMOUS_CODING AKR1C3 ENSG00000196139 ... rs1804059 10 5137819 NON_SYNONYMOUS_CODING AKR1C3 ENSG00000196139 ...

Other in silico analyses

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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