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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

PKD1 R739Q

(PKD1 Arg739Gln)


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

  • 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)

Publications
 

Genomes
 

 

 

 

 

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
 

    dbSNP
  • rs40433
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the PKD1 gene
    Polycystic Kidney Disease 1, Autosomal Dominant
    Polycystic Kidney Disease, Autosomal Dominant
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PKD1
    PolyPhen-2
  • 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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