| Uploaded | \\r\\n
| Added | \\r\\n
| Updated | \\r\\n
\\r\\n \\r\\n \\r\\n \\r\\n\\r\\n
| \\r\\n |||
| \\r\\n \\r\\n The ADPKD Variant Database has been migrated to a new server using industry standard technologies. \\r\\n \\r\\n With this migration we have added many new filtering and searching features as well as a more responsive and intuitive user interface. \\r\\n Soon to follow are the addition of new variants and the incorporation of other scoring features.\\r\\n | \\r\\n |||
\\r\\n \\r\\n \\r\\n \\r\\n
| \\r\\n
| cDNA Designation: | \\r\\n{{ variant.cDNADesignation }} | \\r\\n||||
| Amino Acid Designation: | \\r\\n{{ variant.AminoAcidDesignation }} | \\r\\n||||
| Gene: | \\r\\n{{ variant.GeneName }} | \\r\\nCodon: | \\r\\n{{ variant.Codon }} | \\r\\n||
| Classification: | \\r\\n{{ variant.ClassificationName }} | \\r\\nRefSeq-Gene Position: | \\r\\nRefSeq-Gene Position: | \\r\\n{{ variant.ReferenceSequencePosition }} 0\\\"> to {{ variant.ReferenceSequencePositionStop }} | \\r\\n|
| Clinical Significance (ACMG): | \\r\\nClinical Significance: | \\r\\n{{ variant.ClinicalSignificanceName }} | \\r\\nGenomic Position (HG37): | \\r\\nGenomic Position (HG37): | \\r\\n{{ variant.GenomicPositionHG37 }} | \\r\\n
| Research Significance (PKDB): | \\r\\n{{ variant.ResearchSignificanceName }} | \\r\\nGenomic Position (HG38): | \\r\\nGenomic Position (HG38): | \\r\\n{{ variant.GenomicPositionHG38 }} | \\r\\n|
| Variant Type: | \\r\\n{{ variant.VariantTypeName }} | \\r\\n||||
| Penetrance Group: | \\r\\n{{ variant.PredictedPenetranceName }} | \\r\\ngnomAD ID: | \\r\\n{{ variant.gnomADID }} | \\r\\n||
| Region Start: | \\r\\n{{ variant.RegionStartName }} | \\r\\ngnomAD Allele Count: | \\r\\n{{ variant.gnomADAlleleCount }} | \\r\\n||
| Region End: | \\r\\n{{ variant.RegionEndName }} | \\r\\ngnomAD Allele Number: | \\r\\n{{ variant.gnomADAlleleNumber }} | \\r\\n||
| Region Display: | \\r\\n{{ variant.RegionDisplay }} | \\r\\n||||
| \\r\\n | |||||
| Comment: | \\r\\n{{ variant.Comment }} | \\r\\n
ACMG Classification | \\r\\n |||||
| Population Data: | \\r\\n{{ variant.PopulationDataName }} | \\r\\nPredictive Data: | \\r\\n{{ variant.PredictiveDataName }} | \\r\\nFunctional Data: | \\r\\n{{ variant.FunctionalDataName }} | \\r\\n
| Segregation Data: | \\r\\n{{ variant.SegregationDataName }} | \\r\\nDe novo Data: | \\r\\n{{ variant.DeNovoDataName }} | \\r\\nAllele Data: | \\r\\n{{ variant.AlleleDataName }} | \\r\\n
| Other Database: | \\r\\n{{ variant.OtherDatabaseName }} | \\r\\nOther Data: | \\r\\n{{ variant.OtherDataName }} | \\r\\n||
PKDB Evaluation | \\r\\n |||||
| Substitution Score: | \\r\\n{{ variant.SubstitutionScore }} | \\r\\nContextual Score: | \\r\\n{{ variant.ContextualScore }} | \\r\\nVariant Score: | \\r\\n{{ variant.VariantScore }} | \\r\\n
| Ortholog GV/GD: | \\r\\n{{ variant.OrthologGVGD }} | \\r\\n\\r\\nOther Description of Variant: | \\r\\n{{ variant.OtherDescriptionOfVariant }} | \\r\\n||
| Domain GV/GD: | \\r\\n{{ variant.DomainGVGD }} | \\r\\n\\r\\nOther Variant in Patient: | \\r\\n{{ variant.OtherVariantInPatient }} | \\r\\n||
| gnomAD Score: | \\r\\n{{ variant.gnomADScore }} | \\r\\n\\r\\nSegregation: | \\r\\n{{ variant.Segregation }} | \\r\\n||
| Structure/Function Score: | \\r\\n{{ variant.StructureFunctionScore }} | \\r\\n||||
| Other Change at Residue: | \\r\\n{{ variant.OtherChangeAtResidue }} | \\r\\n||||
| Splicing Score: | \\r\\n{{ variant.SplicingScore }} | \\r\\n
| For your security, you will be logged out automatically in | \\r\\n |
| {{ idleState }} Seconds | \\r\\n
| \" + value + \" |
| \" + value + \" |
| \\r\\n | \\r\\n | ||
| \\r\\n \\r\\n \\r\\n \\r\\n | \\r\\n\\r\\n | \\r\\n | \\r\\n |
| \\r\\n | ||||
| \\r\\n \\r\\n If you wish to send feedback on this site or \\r\\n contact the maintainers then please fill out the form below. \\r\\n All comments will be considered but we cannot guarantee \\r\\n to reply/implement every suggestion.\\r\\n \\r\\n | \\r\\n ||||
| Title: | \\r\\n\\r\\n \\r\\n | \\r\\n|||
| Name (First then Last): | \\r\\n\\r\\n | |||
| E-mail address | \\r\\n\\r\\n | |||
| Comments | \\r\\n\\r\\n | |||
| \\r\\n \\r\\n \\r\\n \\r\\n | \\r\\n||||
| \\r\\n \\r\\n | \\r\\n||||
\\r\\n \\r\\n Version {{ item.Version }}\\r\\n \\r\\n
| \\r\\n
| \" + value + \" |
| \\r\\n Brandon Dallman \\r\\n Database Design & Programming\\r\\n | \\r\\n \\r\\n Christina Heyer & Peter Harris \\r\\n Database Curation & Design\\r\\n | \\r\\n\\r\\n \\r\\n |
| \\r\\n Brandon Dallman \\r\\n Database Design & Programming\\r\\n | \\r\\n \\r\\n Tamara Restrepo, Jamie Sundsbak & Peter Harris \\r\\n Database Curation & Design\\r\\n | \\r\\n\\r\\n \\r\\n |
| \\r\\n Brandon Dallman \\r\\n Database Design & Programming\\r\\n | \\r\\n \\r\\n Sandro Rossetti, Jamie Sundsbak & Peter Harris \\r\\n Database Curation & Design\\r\\n | \\r\\n\\r\\n \\r\\n |
| \\r\\n David Tines Brandon Dallman \\r\\n Database Design & Programming\\r\\n | \\r\\n \\r\\n Sandro Rossetti, Jamie Sundsbak & Peter Harris \\r\\n Database Curation & Design\\r\\n | \\r\\n\\r\\n \\r\\n |
| \\r\\n Brian Wilson \\r\\n Database Design & Programming.\\r\\n | \\r\\n\\r\\n \\r\\n Sandro Rossetti & Peter Harris \\r\\n Database Curation\\r\\n | \\r\\n\\r\\n \\r\\n |
| \\r\\n Alex Gout \\r\\n Data collation, curation and database construction.\\r\\n | \\r\\n\\r\\n \\r\\n Neilson Martin \\r\\n Hardware set-up, software configuration and programming.\\r\\n | \\r\\n\\r\\n \\r\\n David Ravine \\r\\n Data collation and resource conceptualization.\\r\\n | \\r\\n
| \\r\\n Martijn Breuning, Leiden, The Netherlands; \\r\\n David Cooper, Cardiff, UK;\\r\\n Lisa Guay-Woodford, Birmingham, USA;\\r\\n Heikki Lehvaslaiho, Hinxton, Cambridge, UK;\\r\\n Terry Watnick, Baltimore, USA\\r\\n | \\r\\n\\r\\n \\r\\n Alastair Brown, Edinburgh, UK;\\r\\n Dick Cotton, Melbourne, Australia;\\r\\n Dorien Peters, The Netherlands;\\r\\n Vicente Torres, Rochester, USA\\r\\n | \\r\\n\\r\\n\\r\\n Arlene Chapman, Atlanta, USA;\\r\\n Greg Germino, Baltimore, USA;\\r\\n Michael Krawczak, Kiel, Germany\\r\\n | \\r\\n
| \\r\\n SIFT \\r\\n\\r\\n Ng PC, Henikoff S. \\r\\n Predicting Deleterious Amino Acid Substitutions, Genome Res. 2001 May; 11(5): 863.874. \\r\\n\\r\\n Ng PC, Henikoff S. \\r\\n Accounting for Human Polymorphisms Predicted to Affect Protein Function, Genome Res. 2002 December; 436-446 \\r\\n\\r\\n Ng PC, Henikoff S. \\r\\n SIFT: predicting amino acid changes that affect protein function, Nucleic Acids Research, 2003, Vol. 31, No. 13 3812-3814 \\r\\n \\r\\n Kumar P, Henikoff S, Ng PC. \\r\\n \\\"Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm.\\\" \\r\\n Nature Protoc-4 2009; 1073-1081 \\r\\n | \\r\\n
| \\r\\n Align GVGD \\r\\n\\r\\n Tavtigian SV, Deffenbaugh AM, Yin L, Judkins T, Scholl T, Samollow PB, de Silva D, Zharkikh A, Thomas A. \\r\\n \\\"Comprehensive statistical study of 452 BRCA1 missense substitutions\\r\\n with classification of eight recurrent substitutions as neutral.\\\" \\r\\n J Med Genet. 2005 Jul 13; [Epub ahead of print] \\r\\n\\r\\n Mathe E, Olivier M, Kato S, Ishioka C, Hainaut P, Tavtigian SV. \\r\\n \\\"Computational approaches for predicting the biological effect of p53\\r\\n missense mutations: a comparison of three sequence analysis based\\r\\n methods.\\\" \\r\\n\\r\\n Nucleic Acids Res. 2006 Mar 6;34(5):1317-25. Print 2006. \\r\\n PMID: 16522644 [PubMed - indexed for MEDLINE] \\r\\n | \\r\\n
| \\r\\n Human Splicing Finder \\r\\n Desmet FO, Hamroun D, Lalande M, Collod-Beroud G, Claustres M, Beroud C. \\r\\n \\\"Human Splicing Finder: an online bioinformatics tool to predict splicing signals.\\\" \\r\\n Nucleic Acid Res, 2009 \\r\\n | \\r\\n
| \\r\\n Berkeley Drosophila Genome Project \\r\\n Reese MG, Eeckman FH, Kulp D, Haussler D, \\\"Improved Splice Site Detection in Genie.\\\" \\r\\n J Comp Bio 4(3), 311-23 \\r\\n | \\r\\n
| \\r\\n Family Identifier \\r\\n | \\r\\n \\r\\n Your identification code that uniquely represents the family that has the variant. \\r\\n | \\r\\n
| \\r\\n ADPKD Gene \\r\\n | \\r\\n \\r\\n Designate gene where variant is located (PKD1 or PKD2) \\r\\n | \\r\\n
| \\r\\n Exon/Intron Location \\r\\n | \\r\\n \\r\\n Location of the variant (e.g. Ex2 or IVS4) \\r\\n | \\r\\n
| \\r\\n Codon \\r\\n | \\r\\n \\r\\n Amino acid location \\r\\n | \\r\\n
| \\r\\n cDNA Change \\r\\n | \\r\\n \\r\\n Please provide description in accordance with HGVS nomenclature guidelines. \\r\\n | \\r\\n
| \\r\\n Amino Acid Change \\r\\n | \\r\\n \\r\\n Please provide description in accordance with HGVS nomenclature guidelines. Please use amino acid one letter abbreviations\\r\\n | \\r\\n
| \\r\\n Variant Interpretation \\r\\n | \\r\\n \\r\\n Do you consider this variant as PATHOGENIC, NEUTRAL, or INDETERMINATE. \\r\\n | \\r\\n
| \\r\\n Variant Segregation \\r\\n | \\r\\n \\r\\n Does this variant segregate in affected family members? Please indicate yes or no. \\r\\n | \\r\\n
| \\r\\n No. Segregating \\r\\n | \\r\\n \\r\\n What is the total number of segregating individuals in this family? (if applicable) \\r\\n | \\r\\n
| \\r\\n Sibship \\r\\n | \\r\\n \\r\\n Were they in the same sibship? Please indicate yes or no. (if applicable) \\r\\n | \\r\\n
| \\r\\n Other Pathogenic Variants \\r\\n | \\r\\n \\r\\n List any other possibly pathogenic variants found in this family. \\r\\n | \\r\\n
| \\r\\n Publication Details \\r\\n | \\r\\n \\r\\n Please\\r\\n provide publication citation if data has been published. If this\\r\\n is an unpublished submission, please use UNPUBLISHED and list individuals that you wish credited. \\r\\n | \\r\\n
| \\r\\n Additional Comments \\r\\n | \\r\\n \\r\\n Any comments that you wish to provide that might aid the curation of the variant \\r\\n | \\r\\n