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Dear Ken,<br>
<br>
Yes - “X”. does signify a stop in this context, the same as "*" or
"Ter". Thanks for bringing this to our attention - the "X" is the
old style of notation so we will update it for our next release.<br>
<br>
Best wishes,<br>
<br>
Sarah<br>
<br>
<br>
<div class="moz-cite-prefix">On 02/09/2014 20:16, Chen,Ken wrote:<br>
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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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font-family: Calibri, sans-serif; ">
<o:p> </o:p></div>
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font-family: Calibri, sans-serif; ">
Examples:<o:p></o:p></div>
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font-family: Calibri, sans-serif; text-indent: -0.25in; ">
<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>
<div style="margin: 0in 0in 0.0001pt 0.5in; font-size: 11pt;
font-family: Calibri, sans-serif; text-indent: -0.25in; ">
<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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font-family: Calibri, sans-serif; text-indent: -0.25in; ">
<span style="font-size: 11pt; "><br>
</span></div>
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font-size: 11pt; font-family: Calibri, sans-serif; text-indent:
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<span style="font-size: 11pt; ">You answer will be greatly
appreciated.</span></div>
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font-size: 11pt; font-family: Calibri, sans-serif; text-indent:
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<span style="font-size: 11pt; "><br>
</span></div>
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font-size: 11pt; font-family: Calibri, sans-serif; text-indent:
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<span style="font-size: 11pt; "><br>
</span></div>
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<span style="font-size: 11pt; ">-Ken</span></div>
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