ALPORT Database New Submission Form
Please fill out this form to submit new COL4A5 sequence variations to the database. This form should also be used to update clinical information or to clarify phenotype of variants already in the database. Submissions will be reviewed before they are added to the database and the submitter may be contacted for clarification or additional information. For this reason, valid contact information is required to make a submission. If you have any questions or concerns about the submission process please send an email to Genevieve Pont-Kingdon at ARUP Laboratories.
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Please describe any supporting evidence for your classification (benign, mutation, uncertain) such as laboratory results, clinical presentations of the disease, family history, functional study results, etc...
Additional information you wish to submit to database curator and/or displayed in the database.
Please let us know if you wish your name or institution to appear on the database next to the variation submitted (for unpublished variants only). A link from your name to your e-mail address may be added (check box next to e-mail address below) in case you wish to receive questions directly from database users. Otherwise, database curator may contact you if inquiries are made to the variation you submitted.
Please include reference only if accepted or published in a peer reviewed journal.
Phone number will only be used if additional information is needed during the submission process.
Check this box if you want to allow your email address to be displayed along with your contact information for this submission.
Please provide a fax number if you are outside the USA.