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Disclaimer
PhenCode is intended for research purposes only. Although the data are freely
available to all, users should treat the reported mutations with extreme
caution in clinical settings or for any diagnostic or population screening
purpose. This information requires expertise to interpret properly; clinical
diagnosis and/or treatment recommendations should be made only by medical
professionals.
Description
This track is a result of the PhenCode project. It consolidates variants
from many curated locus-specific databases.
Rich genotype and phenotype information is provided. This version includes
entries from the databases listed in the Methods section below.
This covers approximately 1/3 of the loci listed on the
HGVS database listing.
The coverage of the genome can be viewed using
Genome Graphs.
Work is in progress to add more locus-specific databases.
Display Conventions and Configuration
This track is color-coded by the mutation type.
The colors for mutation type are:
-
substitution = purple
-
insertion = green
-
duplication = orange
-
deletion = blue
-
complex = brown
-
unknown = black
Items are labeled with the Human Genome Variation Society (HGVS)
name.
Methods
The data shown in this track were obtained from the following variant sources:
The HGVS-style name
was pulled directly or indirectly from the source
data. The information in this name, in combination with alignments of the
reference sequence against
the genome sequence, was used to position the variants. The source may have
additional variants that could not be mapped to the genome. Additional
attributes displayed for each variant depend on the information available
from the different source databases. If the source has web-accessible entries
for the variants, links are provided back to the source.
Credits
PhenCode developers
- Belinda Giardine, Ross Hardison, Webb Miller, Cathy Riemer
- Center for Comparative Genomics and Bioinformatics, Penn State University,
University Park, Pennsylvania
- Fan Hsu, Jim Kent, Andrew Kern, Robert Kuhn, Heather Trumbower
- Center for Biomolecular Science and Engineering, University of California,
Santa Cruz, California
- Richard Gibbons, Doug Higgs, Jim Hughes
- Weatherall Institute of Molecular Medicine, Oxford, United Kingdom
- Garry Cutting, Andrew P. Feinberg
- Johns Hopkins University School of Medicine, Baltimore, Maryland
Cooperating databases
- AD&FTD Mutation Database:
- Marc Cruts,
Flanders Institute for Biotechnology and
University of Antwerp, Belgium
- ALPL:
- Etienne Mornet,
Centre Hospitalier de Versailles, Le Chesnay, France
- ARdb:
- Bruce Gottlieb,
Lady Davis Institute for Medical Research, Sir Mortimer B. Davis Jewish
General Hospital, Montreal, Quebec, Canada
- BGMUT:
- Olga O. Blumenfeld and Santosh K. Patnaik,
Department of Biochemistry, Albert Einstein College of Medicine, Bronx, New
York
- CA2base:
- Mauno Vihinen,
Institute of Medical Technology, University of Tampere, Tampere, Finland
- CASRdb:
- Geoffrey Hendy and David Cole,
McGill University, Montreal, Quebec, Canada
- CBS:
- Jan P. Kraus and Miroslav Janosik,
University of Colorado School of Medicine, Aurora, Colorado
Viktor Kozich,
Institute of Inherited Metabolic Diseases,
Charles University in Prague, First Faculty of Medicine,
Czech Republic
-
CFMDB:
- Julian Zielenski and Richard Sang,
The Hospital for Sick Children, Genetics and Genomic Biology, Toronto,
Ontario, Canada
- CLCN7base:
- Mauno Vihinen,
Institute of Medical Technology, University of Tampere, Tampere, Finland
-
dbPEX:
- Nancy Braverman, Institute of Genetic Medicine and Dept. of Pediatrics,
Johns Hopkins Medical Center, Baltimore, MD
Steven Steinberg, Dept.of Neurology,
Johns Hopkins University School of Medicine, Baltimore, MD
- dbRIP:
- Ping Liang, Roswell Park Cancer Institute, Buffalo, New York
Mark Batzer, Louisiana State University, Baton Rouge, LA
- F12base:
- Mauno Vihinen,
Institute of Medical Technology, University of Tampere, Tampere, Finland
- Fanconi:
- Arleen D. Auerbach, Francis Lach,
The Rockefeller University, New York, NY
- FHC Mutation Database, version 1.1:
- This project is a collaborative effort among the Department of Molecular and
Clinical Genetics and Department of Cardiology at the Royal Prince Alfred
Hospital, and the Australian National Genomic Information Services. The
curators are:
Dr. Bing Yu,
Department of Molecular Genetics,
C39 - Royal Prince Alfred Hospital,
The University of Sydney,
NSW 2006 Australia
Professor R. Trent,
Department of Molecular Genetics,
K25 - Medical Foundation Building,
The University of Sydney,
NSW 2006 Australia
- HbVar:
- George Patrinos, Erasmus University, Rotterdam, Netherlands
Henri Wajcman, Hospital Henri Mondor, Creteil, France
David H.K. Chui, Boston University, Boston, Massachusetts
Nicholas Anagnou, University of Athens and IIBEAA, Athens, Greece
Georgi D. Efremov, Macedonian Academy of Sciences and Arts, RCGEB, Skopje,
Macedonia
- HIFD:
- Lim Yun Ping, Centre for Molecular Medicine and the Bioinformatics Institute, Singapore
- IARC TP53:
- Magali Olivier,
Pierre Hainaut,
Group of Molecular Carcinogenesis and Biomarkers,
France
- IDbases:
- Anne Durandy,
Michael Hershfield,
Laszlo Marodi,
Luigi D. Notarangelo,
Claudio Pignata,
Jose R. Regueiro,
Dirk Roos,
C.I.Edvard Smith,
Jouni Valiaho,
Mauno Vihinen,
Anna Villa,
Institute of Medical Technology, University of Tampere, Tampere, Finland
- IPNMDB:
- Eva Nelis, VIB - Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium
- ISTH SSC VWF:
- Dan Hampshire, Anne Goodeve, Nick Beauchamp, David Lillicrap,
Ross MacLachlan,
The University of Sheffield, United Kingdom
- KinMutBase:
- C. Ortutay,
Jouni Valiaho,
K. Stenberg,
Mauno Vihinen,
Institute of Medical Technology, University of Tampere, Tampere, Finland
- LMDp:
- Johan T. den Dunnen,
Leiden University Medical Center, Leiden, Nederland
See also the database tool LOVD
- LQTSdb:
- Michael Christiansen, Lars Allan Larsen, and Paal Skytt Andersen,
Molecular Cardiology Group, Statens Serum Institut, Denmark
- MMR:
- Michael O. Woods,
Faculty of Medicine, HSC,
Memorial University of Newfoundland,
St. John's, NL, Canada
- OSTM1base:
- Mauno Vihinen,
Institute of Medical Technology, University of Tampere, Tampere, Finland
- PAHdb:
- Charles R. Scriver, McGill University, Montreal Children's Hospital
Research Institute, Montreal, Quebec, Canada
- RettBASE:
- John Christodoulou,
Gladys Ho,
Andrew Grimm (previous database coordinator),
Children's Hospital at Westmead, Sydney and
University of Sydney, Australia
- RISN:
- Markus Preising,
Molecular Genetics Laboratory,
University of Regensburg, Bavaria, Germany
- RPGR:
- Xinhua Shu and Alan Wright
- SRD5A2:
- Juergen Reichardt, University of Sydney, Sydney, Australia
Nick Makridakis, University of Southern California, Los Angeles, California
- X-ALD:
- Stephan Kemp,
Academic Medical Center/Emma Children's Hospital,
Amsterdam, The Netherlands