## Description

Consolidates mutations from locus-specific databases and a genome wide mutation database into a composite track, with an emphasis on those associated with phenotypic effects. This prototype version includes entries mostly from the globin loci, plus a few sample entries from the CFTR region for the locus-specific subtrack.

## Variant Sources

- The HbVar database describes variants and thalassemia mutations in the globin loci. http://www.bx.psu.edu/
- Coming soon: CFTR data. (A few sample variants from this region have already been added.)
- Swiss-Prot data on variants within coding regions is available genome wide.
- A possible connection with WayStation, the HGVS community-wide database. http://www.genomic.unimelb.edu.au/mdi/centraldb.html

## Filtering

- Filtering can be performed on the location of the mutations with respect to genes, i.e. to exclude those in exons, introns, UTR regions, or those not within any known transcription unit.
- One can also exclude mutations by type: substitution, insertion, deletion, duplication, or complex.

## Color key

The track is color coded by the mutation type. Also the mutations with darker colors indicate that there is a link to clinical data on the details page.

- substitution = purple
- insertion = green
- deletion = blue
- duplication = orange
- complex = red
- unknown = black

## Supporting Details

Positional information can be found in the annotations section of the Genome Browser downloads page, which is organized by species and assembly. Non-positional information can be found in the shared data section of the same page.

## Credits

Center for Comparative Genomics and Bioinformatics, Penn State University, University Park, PA
  Belinda Giardine, Ross Hardison, Webb Miller, Cathy Riemer
Erasmus University, Rotterdam, Netherlands
  George Patrinos
Hospital Henri Mondor, Creteil, France
  Henri Wajcman
Boston University
  David H.K. Chui
U. Athens and IIBEAA, Athens, Greece
  Nicholas Anagnou
Macedonian Academy of Sciences and Arts, RCGEB, Skopje, Macedonia
  Georgi D. Efremov
Weatherall Institute of Molecular Medicine, Oxford UK
  Richard Gibbons, Doug Higgs, Jim Hughes
Johns Hopkins University School of Medicine, Baltimore, MD
  Garry Cutting, Andrew P. Feinberg
Center for Biomolecular Science and Engineering, University of California, Santa Cruz, CA
  Fan Hsu, Jim Kent, Andrew Kern, Robert Kuhn, Heather Trumbower