[ensembl-dev] Question about "X"

Chen,Ken KChen3 at mdanderson.org
Tue Sep 2 20:16:06 BST 2014


Dear group, we are users of VEP,

We’ve seen a few examples in our data where the p.HGVS gives an “X”.  Is this the same as a*, meaning truncation?

Examples:
•        H64IfsX35:  My interpretation being an insertion or deletion of nucleotides caused a substitution at codon 64 (H to I) that also resulted in a premature stop codon 35 amino acids from codon 64.
•        T319X: My interpretation being that an insertion or deletion of nucleotides caused a mutation from T to a stop codon.

You answer will be greatly appreciated.


-Ken
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