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Reading splice daa

New to this field. I have a dataset where the mutation type is splice and the alteration is coded "c.673-3T>G". How to interpret this? How do i translate this into what protein change has occoured ie what codon? Thanks

next-gen

do you have access to the associated RNA-Seq ? If yes first take a look in IGV

1 answer

If this is a change in a splice site then there may not be a change in the protein sequence at all, there might simply be no protein. Or maybe there's less protein. Or maybe there's a switch in the isoform usage.

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