Regarding Homozygous or Heterozygous Mutation

[Pradeep Mishra]

Dear cBioPortal,

I am studying mutations in the RRM1 gene and found that protein is mutated in many cancer patients. I would like to know which mutations are homozygous or heterozygous. Do you have any information?

Best Regards,

Pradeep

[Priti Kumari]

Hi Pradeep,

 

There is currently no way to definitively determine whether a mutation is heterozygous/homozygous or in cis/trans with another mutation. However, you can try to infer the status of mutations by noting the copy number status of the gene and the variant allele frequency of the mutation(s) of interest relative to other mutations in the same sample. The cBioPortal patient/sample view can help you accomplish this. 

 

For more information please refer to our FAQ page.

 

Thank you,

Priti

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[Pradeep Mishra]

Thank you so much.

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From: Priti Kumari <prit...@gmail.com>
Sent: Tuesday, October 11, 2022 7:52:15 PM
To: Pradeep Mishra; cbiop...@googlegroups.com
Subject: Re: Regarding Homozygous or Heterozygous Mutation