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Table 2 The pathogenicity prediction of the candidate variants is summarized in this table. The annotation is based on Human GRCh37/hg19

From: Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report

Gene NM Ref/Alt Chr. Position Alternation dbSNP MutationTaster SIFT Provean HSF Polyphen-2 gnomAD 1000 Genome Iranome
XIRP2 NM_001199144.1 T/C Chr2:168107737 c.9835 T > C;
p.(Ser3279Pro)
rs199990336 B B B PD 1.93e-3 NR 0.01063
MAP3K19 NM_001018044.2 T/C Chr2:135745772 c.332 T > C; p.(Ile111Thr) B PD B B NR NR NR
RAB3GAP1 NM_012233.2 T/G Chr2:135848563 c.151-5 T > G; p.(Gly51IlefsTer15) D D NR NR NR
  1. Abbreviations: B Benign, D Damaging, PD Probably Damaging, NR Not-reported