Closed chrstphdm closed 5 years ago
This is indeed confusing.
A transcript reference sequence does not contain any intronic sequences, this is why when we ask Mutalyzer to do a full check of this variant description, it raises this error.
The only way to check variants in an intron is to use a genomic reference sequence, for example:
`NC_000007.13(NM_005228.3):c.1498+22A>T`
Hello,
I'm using position-converter to obtain a "c." notation for my specific transcript (
chr7:g.55228053A>T
to obtainNM_005228.3:c.1498+22A>T
) : https://mutalyzer.nl/position-converter?assembly_name_or_alias=GRCh37&description=chr7%3Ag.55228053A%3ETBut entering this notation (
NM_005228.3:c.1498+22A>T
) in name-checker throw an error (Intronic position given for a non-genomic reference sequence.
) : https://mutalyzer.nl/name-checker?description=NM_005228.3%3Ac.1498%2B22A%3ETDid I miss something ?
Thank you.