Submit new variant/mutation

Please help us keep this website up-to-date. The option of data submission by external users has primarily been developed for researchers who want add their published data to this database. Unpublished data will be clearly labeled in our database.

Your submission will be sent to one of the curators. We will contact you by e-mail if we have any further questions.

Thank you.


General remarks/ Disclaimer

  • This software and data are provided to enhance knowledge and encourage progress in the scientific community and are to be used only for research and educational purposes. Any reproduction or use for commercial purpose is prohibited without the prior express written permission of University Medical Center Groningen.
  • Reference sequences for the genes in this database: DSC2, DSG2, DSP, JUP, PKP2, CTNNA3, DES, LMNA, PLN, TGFB3, TMEM43, TTN.
  • Mutation nomenclature follows the standard reported here: http://www.hgvs.org/mutnomen/
  • Numbering of nucleotides starts at the first position of the methionine start-codon.
  • Controls are displayed as the number of mutations found in a number of control chromosomes.
  • The classification of the variants is as listed in the corresponding article(s).
    • Synonymous mutations not listed in dbSNP and not tested in controls are classified as Unclassified Variants.
    • To help interpret the effect of missense mutations, we provide data obtained from three in silico prediction methods: the Grantham score, PolyPhen and SIFT.
    • The classification of a variant can change as a result of (a) new publication(s). These changes will be listed under 'news'

Work on this database is financially supported by the Department of Genetics of the University Medical Center Groningen, the Netherlands,
and by a grant from the Netherlands Heart Foundation (2007B132).

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Last update: February 10, 2015

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Article details


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Variant/mutation details Or enter new value
 (e.g. E578C or K616del)
 (e.g. c.320T>G)
 (e.g. p.Ile107Arg)
 (e.g. 6p24)


Or enter new value
Or enter new value