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The PKD Mutation Database Entrance Page | pkdb.mayo.edu Reviews

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The PKD Mutation Database Homepage

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The PKD Mutation Database Entrance Page

http://pkdb.mayo.edu/ADPKD_Data_Submission_Guidelines.html

Autosomal Dominant Polycystic Kidney Disease: Mutation Database. ADPKD Data Submission Guidelines. Please prepare a table of gene variants with the following column headings. Your identification code that uniquely represents the family that has the variant. Designate gene where variant is located (PKD1 or PKD2). Location of the variant (e.g. Ex2 or IVS4). Please provide description in accordance with HGVS nomenclature guidelines. Please provide description in accordance with HGVS nomenclature guidelines.

2

PKD Mutation Database

http://pkdb.mayo.edu/cgi-bin/v2_display_mutations.cgi?apkd_mode=PROD

Autosomal Dominant Polycystic Kidney Disease: Mutation Database. Large Deletion or Duplication. Total Number Of Records Matching Criteria =. Total Number Of Unique Pedigrees. Unique pedigrees are not recorded for mutations classified as Likely Neutral. 11 Likely Pathogenic: Variant Score Between 5 and 10 Indeterminate variants: Variant Score between -4 to 4 Neutral variants: Variant score. T&clinical=Likely Neutral&score=&gene mutation id=110&apkd mode=PROD&username=" -117G T. T&clinical=Likely Neutral&s...

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The PKD Mutation Database Entrance Page

Autosomal Dominant Polycystic Kidney Disease Mutation Database: PKDB. Welcome to the ADPKD Mutation Database. The Autosomal Dominant Polycystic Kidney Disease (ADPKD) Database (PKDB) has been established to facilitate the characterization of ADPKD variants in PKD1 and PKD2, the two genes known to have mutations causative of ADPKD. It has been set up to be a repository for all variants in these genes, whether likely disease causing or not. Please provide feedback to the Administrator. Added an additional ...

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