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Dear group, we are users of VEP, </div>
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We’ve seen a few examples in our data where the p.HGVS gives an “X”. Is this the same as a*, meaning truncation?<o:p></o:p></div>
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<o:p> </o:p></div>
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Examples:<o:p></o:p></div>
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<span style="font-family: Symbol; ">·<span style="font-size: 7pt; font-family: 'Times New Roman'; "> </span></span>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.<o:p></o:p></div>
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<span style="font-family: Symbol; ">·<span style="font-size: 7pt; font-family: 'Times New Roman'; "> </span></span>T319X: My interpretation being that an insertion or deletion of nucleotides caused a mutation from T to a stop codon.</div>
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<span style="font-size: 11pt; ">You answer will be greatly appreciated.</span></div>
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<span style="font-size: 11pt; ">-Ken</span></div>
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