Open Gerosyclouds opened 4 years ago
Hi, It failed to annotate the protein change correctly when transvar the following variant: `transvar ganno --refseq -i 'chr8:g.145737904C>T'
input transcript gene strand coordinates(gDNA/cDNA/protein) region info
chr8:g.145737904C>T NM_004260.3 (proteincoding) RECQL4 - chr8:g.145737904C>T/c.2927G>A/p.976 inside[cds_in_exon_17] CSQN=Synonymous;dbsnp=rs35070885(chr8:145737904C>T);codon_pos=145737903-145737904-145737905;ref_codon_seq=TGA;dbxref=GeneID:9401,HGNC:9949,MIM:603780;aliases=NP_004251;source=RefSeq`
transvar --version TransVar Version 2.5.9.20190830
See https://www.ncbi.nlm.nih.gov/clinvar/variation/406950/
Is this something you could look at?
Hi, It failed to annotate the protein change correctly when transvar the following variant: `transvar ganno --refseq -i 'chr8:g.145737904C>T'
input transcript gene strand coordinates(gDNA/cDNA/protein) region info
chr8:g.145737904C>T NM_004260.3 (proteincoding) RECQL4 - chr8:g.145737904C>T/c.2927G>A/p.976 inside[cds_in_exon_17] CSQN=Synonymous;dbsnp=rs35070885(chr8:145737904C>T);codon_pos=145737903-145737904-145737905;ref_codon_seq=TGA;dbxref=GeneID:9401,HGNC:9949,MIM:603780;aliases=NP_004251;source=RefSeq`
transvar --version TransVar Version 2.5.9.20190830See https://www.ncbi.nlm.nih.gov/clinvar/variation/406950/
Is this something you could look at?