mutalyzerbot
commented
8 years ago Original date: 2013/10/31 Original reporter: j DOT f DOT j DOT laros AND lumc DOT nl
Dear Sir, Madam,
In general I would try to find either an LRG (http://www.lrg-sequence.org/LRG) or an NG to check intronic and intergenic variants. If none are available, you can use the reference file loader (https://mutalyzer.nl/upload) to retrieve a part of the genomic reference sequence by gene name. In this case (NOTCH1), the reference file loader returns UD_132085360782, which can be used as an accession number in the namechecker. The new variant description would be: UD_132085360782(NOTCH1):c.1556-43T>C
With kind regards, Jeroen.
Original ticket: https://humgenprojects.lumc.nl/trac/mutalyzer/ticket/154 Original date: 2013/10/31 Original reporter: anonymous
Ticket 153: "I tried to submit NM_017617.3:c.1556-43T>C and got the error (variantchecker): Intronic position given for a non-genomic reference sequence.. What does this error message mean? Thanks in advance for your help" I got this reference sequence number throught position converter tool only. Can you suggest how can I get different reference sequence number for the same whcih have hte information about introns.