[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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