[ensembl-dev] Incorrect RefSeq HGVSc?
myko at l3-bioinfo.com
Wed Jun 20 10:53:10 BST 2018
I have a variant '2 31754395 . C T . . .' annotated by VEP web service:
The resulting HGVS notations are:
- HGVSc: NM_000348.3:c.679G>A
- HGVSp: NP_000339.2:p.Arg227Gln
Searching the HGVSp on ClinVar, a corresponding result
https://www.ncbi.nlm.nih.gov/clinvar/variation/3351 is found. However, the
coding HGVS on ClinVar's web page is NM_000348.3:c.*680*G>A.
Checking VEP's HGVSc on Mutalyzer's name checker (
error shows that the reference base at c.679 is C instead of G.
I wonder if the HGVSc given by VEP is correct. Thank you.
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