[ensembl-dev] possible VEP bug

[Michael Krauthammer]

A possible (small) VEP bug report:

The HGVS input parser does not seem to check for the directionality of
the transcript

The following (correct) input:

CCDS6119.1:c.3327+1G>C

results in error.

The following (wrong) input works:

CCDS6119.1:c.3327-1G>C

The output of above input results in

CCDS6119.1:c.3327-1G>C  8:41552109      C       CCDS6119.1
CCDS6119.1      Transcript      splice-5        -       -       -
 -       -       -
ENSP=CCDS6119.1;HGVSc=CCDS6119.1:c.3327+1G>C;INTRON=28/41

Nota bene: GVSc=CCDS6119.1:c.3327+1G>C  (!) which is the correct notation.

Michael Krauthammer