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chr8:g.145737904C>T protein change failed #41

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Gerosyclouds opened this issue Dec 9, 2019 · 0 comments
Open

chr8:g.145737904C>T protein change failed #41

Gerosyclouds opened this issue Dec 9, 2019 · 0 comments

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@Gerosyclouds
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Gerosyclouds commented Dec 9, 2019

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 (protein_coding) 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?

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