Finding of mutation in genome with record like MTHFR C677T.

[ma.zat...@gmail.com]

Hello!

I've got a lot of genes in medical record (like MTHFR C677T) and I need to find them in IGV. I can onle search name of gene (MTHFR) or exact position (like Chr12:123456). Do you know some easy way how to find MTHFR C677T in IGV or to convert MTHFR C677T to Chr12:123456?

Thanks a lot!

Martina

[James Robinson]

Sorry, meant to say try the following syntax    MTHFR:C677T

On Fri, Sep 23, 2016 at 4:06 PM, James Robinson <jrob...@broadinstitute.org> wrote:

Try the following syntax

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[James Robinson]

Also,  you did not specify a genome assembly but that particular codon does not exist in the Refseq gene set we use for hg19 and hg38, did you make this example up?    The last codon is 656, so for example   MTHFR:P656Q will take you there.     

On Fri, Sep 23, 2016 at 3:10 PM, James Robinson <jrob...@broadinstitute.org> wrote:

Sorry, meant to say try the following syntax    MTHFR:C677T

On Fri, Sep 23, 2016 at 4:06 PM, James Robinson <jrob...@broadinstitute.org> wrote:

Try the following syntax

On Fri, Sep 23, 2016 at 4:19 AM, <ma.zat...@gmail.com> wrote:

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