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In the GPSEA-CS analysis of LMNA, we have the following issue (note that the analysis itself is working, the only problem is a small one in the Variant Allele table that is produced by
However, our variant allele shows this as downstream of gene
It should be listed as synonymous (the actual effect is on splicing, but there is no way the software can deduce that; ideally it would say splicing region variant).
The text was updated successfully, but these errors were encountered:
In the GPSEA-CS analysis of LMNA, we have the following issue (note that the analysis itself is working, the only problem is a small one in the Variant Allele table that is produced by
GRCh38:1:156138613:C:T is NM_170707.4:c.1824C>T
According to VariantValidator we have NP_733821.1:p.(Gly608=) -- this is correct (see https://www.ncbi.nlm.nih.gov/clinvar/variation/14500/)
However, our variant allele shows this as downstream of gene
It should be listed as synonymous (the actual effect is on splicing, but there is no way the software can deduce that; ideally it would say splicing region variant).
The text was updated successfully, but these errors were encountered: