LOVD 2.0

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FS#31 - Entering homozygous mutations

Attached to Project: LOVD 2.0
Opened by Raymond Dalgleish (rwmd) - Tuesday, 24 June 2008, 15:14 GMT+1
Last edited by Ivo F.A.C. Fokkema (ifokkema) - Friday, 10 October 2008, 17:14 GMT+1
Task Type Bug Report
Category Backend / Core → Variant submission
Status Closed
Assigned To Ivo F.A.C. Fokkema (ifokkema)
Operating System All
Severity Medium
Priority Normal
Reported Version 2.0-06
Due in Version 2.0-13
Due Date 2008-10-31
Percent Complete 100%
Votes 0
Private No


This is a bug in version 2.0-07. There is no option to select this version in the drop-down menu in Flyspray.

There is an unfortunate consequence if you forget to select \"Both (homozygous)\" in the \"Variant allele\" field of the \"Submit new sequence variant\" form when entering data for a homozygous recessive mutation. Let\'s say that you mistakenly accept the default value of \"Unknown\", you fill in all of the other variant data correctly, and you click on the \"Add variant data\" button. This causes only a single instance of the mutation to be associated with the patient whose data you are about to enter. Any attempt at that point to \"manually\" add a second instance of the mutation can fail if you are entering the variant for the first time. Even if it already exists in the database, an SQL error message is created associated with this manual attempt to add a second instance.

If you go ahead and finalise the submission with only a single instance of the mutation, and later update the \"Variant field\" from \"Unknown\" to \"Both (homozygous)\", it does not result in the same outcome as having selected \"Both (homozygous)\" from the outset.
This task depends upon

Closed by  Ivo F.A.C. Fokkema (ifokkema)
Friday, 31 October 2008, 17:59 GMT+1
Reason for closing:  Fixed