cancer.sanger.ac.uk
COSMIC: Data Submission Page
http://cancer.sanger.ac.uk/cosmic/submissions
I am an author, how should I describe mutation data in my publications? We list here some guidelines for authors to help improve the speed of curation for an increasing volume of literature relevant to COSMIC and to ensure the continuing accuracy of our curation. By following these guidelines authors will contribute to the quick and efficient dissemination of their research results via COSMIC. It is much easier and quicker for us to map reported mutations to COSMIC reference sequences if the author has s...
factorix.org
Factor IX Variant Database
http://www.factorix.org/sequence.html.php
Clicking and Dragging the mouse over the sequences will take you across the sequence limits. All numbering is for human FIX and is HGVS. Multiple Sequence Alignment of putative FIX protein sequence from selected species. Multiple Sequence Alignment of Human Vitamin K dependent coagulation factors serine protease domains. Gower Street, London WC1E 6BT.
grch37-cancer.sanger.ac.uk
COSMIC: Data Submission Page
http://grch37-cancer.sanger.ac.uk/cosmic/submissions
I am an author, how should I describe mutation data in my publications? We list here some guidelines for authors to help improve the speed of curation for an increasing volume of literature relevant to COSMIC and to ensure the continuing accuracy of our curation. By following these guidelines authors will contribute to the quick and efficient dissemination of their research results via COSMIC. It is much easier and quicker for us to map reported mutations to COSMIC reference sequences if the author has s...
mutalyzer.nl
Mutalyzer 2.0.21 — Name Checker
https://www.mutalyzer.nl/name-checker
HGVS Sequence Variant Nomenclature. Please insert a variant description using the HGVS. AB026906.1:c.40 42del. NG 012337.1(SDHD v001):c.274G T. Mutalyzer 2.0.21. Released on 24 Jun 2016. HGVS nomenclature version 2.0.
cf.eqascheme.org
CF Network - Nomenclature
http://cf.eqascheme.org/info/public/education/nomenclature.xhtml
Mutation nomenclature in practice: Findings and recommendations from the cystic fibrosis external quality assessment scheme. Berwouts S, Morris MA, Girodon E, Schwarz M, Manfred S, Dequeker E. Human Mutation, 2011, 32 (11), 1197-1203. HGVS Nomenclature for the description of sequence variants. HUGO Mutation Database Initiative. Cystic Fibrosis Mutation Database. Standard mutation nomenclature in molecular diagnostics - Practical and educational challenges. Journal of Molecular Diagnostics, 2007, 9:1-6.
mutalyzer.nl
Mutalyzer 2.0.21 — Syntax Checker
https://www.mutalyzer.nl/syntax-checker
HGVS Sequence Variant Nomenclature. Please insert a variant description using the HGVS. AB026906.1:c.40 42del. NG 012337.1(SDHD v001):c.274G T. Mutalyzer 2.0.21. Released on 24 Jun 2016. HGVS nomenclature version 2.0.
eahad-db.org
EAHAD VARIANT DATABASES
http://www.eahad-db.org/citations.html.php
If you find our databases useful, please reference our publications:. Factor IX Mutation Database:. Rallapalli, pm, Kemball-Cook, G., Tuddenham, E.G., Gomez, K., and Perkins, S.J. 2013. An interactive mutation database for human coagulation factor IX provides novel insights into the phenotypes and genetics of haemophilia B. 11(7):1329-1340 available from: PM:23617593. VWF Online Database (VWFdb). 37(5):470-479 available from: PM:22102189. 2010 , EAHAD.
eahad-db.org
EAHAD VARIANT DATABASES
http://www.eahad-db.org/people.html.php
Organisation of the EAHAD Variant Databases Project. The EAHAD Coagulation Factors Variant Database Project is administered by the following groups:. EAHAD Variant Database Steering Group. EAHAD Variant Database Curator Group. EAHAD Individual Variant DB Advisory Committees. 2010 , EAHAD. No part of this site may be copied or used in any way without permission.
eahad-db.org
EAHAD VARIANT DATABASES
http://www.eahad-db.org/db-policy.html.php
The European Association for Haemophilia and Allied Disorders (EAHAD) Coagulation Factor Mutation Databases. Are maintained and provided as a public service for the clinical, diagnostic and coagulation factor research communities. Beyond limited editorial control and some integrity checks, the quality and accuracy of the record is the responsibility of the submitter, not of the database. The database curators will work with submitters and users of the database to achieve the best quality resource pos...
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