PKD1 W1399R - 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 W1399R

(PKD1 Trp1399Arg)


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

  • G @ chr16:2160973: 3.6% (386/10734) in EVS
  • G @ chr16:2100973: 2.5% (3/120) in GET-Evidence
  • Frequency shown in summary reports: 3.6% (386/10734)

Publications
 

Genomes
 

 

hu34D5B9 - hu34D5B9 exome
het G @ chr16:2160973

 

 

 

 

 

GS18505 - var-GS18505-1100-36-ASM
hom G @ chr16:2100974

 

Other external references
 

    dbSNP
  • rs116092985
    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: 0.031 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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