NM_004994:c.1174+6->A
Unable to identify variant for following reasons: 1) NM_004994 is for MMP9 not ITGA2B 2) c.1174 is not a exon boundary in ITGA2B Mane transcript 3) ->A is not standard notation, is this a substitution to A of whatever is normally there or is it an insertion of A or something else?