Question: Mutation already reported
0
gravatar for goyal.shiwali
4 weeks ago by
goyal.shiwali10 wrote:

I have observed a mutation in my study which was already reported in a single study in the literature. Can I call it as a recurrent mutation?? or is there any other terminology for that.....please help Thanks in advance

mutation • 113 views
ADD COMMENTlink written 4 weeks ago by goyal.shiwali10
1
gravatar for WouterDeCoster
4 weeks ago by
Belgium
WouterDeCoster39k wrote:

I think it would be better to check in large databases such as gnomad, to determine its frequency.

ADD COMMENTlink written 4 weeks ago by WouterDeCoster39k

IT HAS Allele Count OF 1 / 121316 THAT TOO IN EUROPEAN (NON-FINNISH) AND MY POPULATION WAS CAUCASIANS

ADD REPLYlink written 4 weeks ago by goyal.shiwali10

Turn your caps lock off. No need to shout. I can also read non-capitalized letters, thank you.

You can now conclude it is an extremely rare variant. "Recurrent" is not accurate. To be precise, just report the gnomad frequency.

ADD REPLYlink written 4 weeks ago by WouterDeCoster39k

Ok, I am extremely sorry for writing caps lock on....no intentions of shouting or giving more stress to my point It all happened by chance Anyways thanks for your suggestions and for sparing your precious time Regards

ADD REPLYlink written 4 weeks ago by goyal.shiwali10
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