Autosomal Dominant Polycystic Kidney Disease: Mutation Database
 
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ADPKD Data Submission Guidelines
Welcome PKD1 PKD2 Variant Submission Acknowledgements Contact

Please prepare a table of gene variants with the following column headings

Family Identifier
Your identification code that uniquely represents the family that has the variant.
ADPKD Gene
Designate gene where variant is located (PKD1 or PKD2)
Exon/Intron Location
Location of the variant (e.g. Ex2 or IVS4)
Codon
Amino acid location
cDNA Change
Please provide description in accordance with HGVS nomenclature guidelines
Amino Acid Change
Please provide description in accordance with HGVS nomenclature guidelines.  Please use amino acid one letter abbreviations
Variant Interpretation
Do you consider this variant as PATHOGENIC, NEUTRAL, or INDETERMINATE.
Variant Segregation
Does this variant segregate in affected family members?  Please indicate yes or no.
No. Segregating
What is the total number of segregating individuals in this family?  (if applicable)
Sibship
Were they in the same sibship?  Please indicate yes or no. (if applicable)
Other Pathogenic Variants
List any other possibly pathogenic variants found in this family.
Publication Details
Please provide publication citation if data has been published.  If this is an unpublished submission, please use UNPUBLISHED and list individuals that you wish credited.
Additional Comments
Any comments that you wish to provide that might aid the curation of the variant

Downloads

   ADPKD Submission Excel Worksheet

   Reference Genomic Sequence
      PKD1.txt
      PKD2.txt

   Reference Coding Sequence
      PKD1.txt
      PKD2.txt

   Protein Sequence
      Polycystin1.txt
      Polycystin2.txt