PKD1 R739Q - 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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PKD1 R739Q

(PKD1 Arg739Gln)

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

  • T @ chr16:2164808: 87.4% (1490/1704) in EVS
  • T @ chr16:2104808: 100.0% (22/22) in GET-Evidence
  • Frequency shown in summary reports: 87.4% (1490/1704)







hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom T @ chr16:2164808




huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom T @ chr16:2164808



GS12004 - var-GS12004-1100-36-ASM
hom T @ chr16:2104809


GS18501 - var-GS18501-1100-36-ASM
hom T @ chr16:2104809


GS18502 - var-GS18502-1100-36-ASM
hom T @ chr16:2104809


GS18505 - var-GS18505-1100-36-ASM
hom T @ chr16:2104809


GS18537 - var-GS18537-1100-36-ASM
hom T @ chr16:2104809


GS19648 - var-GS19648-1100-36-ASM
hom T @ chr16:2104809


GS19834 - var-GS19834-1100-36-ASM
hom T @ chr16:2104809


Other external references

  • rs40433
  • GeneTests records for the PKD1 gene
    Polycystic Kidney Disease 1, Autosomal Dominant
    Polycystic Kidney Disease, Autosomal Dominant
  • Score: 0.001 (benign)
    Web search results (0 hits -- see all)

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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