UK Registry / Mutation / sMutationType

[fhosking]

There is a variable in the data export of the UK registry called sMutationType, alongside dtMutationalAnalysisDate. I can't seem to find anything to correspond to these in the UK registry screenshots.

Presumably, they correspond to these fields in the Hammersmith Registry:

However it does seem a bit strange that these are all the unique responses to the 'Which mutation'

Perhaps this is fine

[afzalkhan500]

We will look into this.

[afzalkhan500]

This corresponds to following in Followups>pick a year>Molecular Analysis>

However, there is something strange going on for this section because for one patient that has trisomy 8 in sMutationType it has the following: But for all the other patients it has following:

Hence sMuationType are all number except for that one patient which has trisomy 8.

In the Hammersmith registry these correspond to:

Hope this make sense!! Might be better to go over it when we meet.

[fhosking]

Ok, let's review it when we are next together. I'm not sure what it means to have a mutation type of 23.4, for example.

[fhosking]

So is mutation type "23.4" a legitimate mutation type, and should be provided as free text?