Annotation Detail
Information
- Associated Genes
- PALB2
- Associated Variants
-
PALB2 p.Gly1166ValfsTer25 (p.G1166Vfs*25)
(
ENST00000566069.6,
ENST00000261584.9,
ENST00000697379.2,
ENST00000697383.1,
ENST00000561514.3,
ENST00000697376.1,
ENST00000568219.5,
ENST00000697377.2,
ENST00000697374.1,
ENST00000713774.1 )
PALB2 p.Asn1039IlefsTer2 (p.N1039Ifs*2) ( ENST00000566069.6, ENST00000697379.2, ENST00000261584.9, ENST00000697376.1, ENST00000561514.3, ENST00000697383.1, ENST00000568219.5, ENST00000697374.1, ENST00000697377.2, ENST00000713774.1 )
PALB2 p.Phe440LeufsTer12 (p.F440Lfs*12) ( ENST00000568219.5, ENST00000697379.2, ENST00000261584.9, ENST00000697383.1, ENST00000561514.3, ENST00000697376.1, ENST00000566069.6, ENST00000697374.1, ENST00000697377.2, ENST00000713774.1 )
PALB2 p.Leu253IlefsTer3 (p.L253Ifs*3) ( ENST00000697374.1, ENST00000697377.2, ENST00000713774.1, ENST00000568219.5, ENST00000261584.9, ENST00000697379.2, ENST00000697383.1, ENST00000561514.3, ENST00000697376.1, ENST00000566069.6 )
PALB2 p.Arg170IlefsTer14 (p.R170Ifs*14) ( ENST00000713774.1, ENST00000697377.2, ENST00000697374.1, ENST00000568219.5, ENST00000697383.1, ENST00000697376.1, ENST00000561514.3, ENST00000261584.9, ENST00000697379.2, ENST00000566069.6 )
PALB2 p.Gln60ArgfsTer7 (p.Q60Rfs*7) ( ENST00000566069.6, ENST00000697374.1, ENST00000697379.2, ENST00000261584.9, ENST00000561514.3, ENST00000697376.1, ENST00000697383.1, ENST00000697377.2, ENST00000713774.1, ENST00000568219.5 )
PALB2 p.Arg26GlyfsTer7 (p.R26Gfs*7) ( ENST00000697377.2, ENST00000697374.1, ENST00000713774.1, ENST00000568219.5, ENST00000697379.2, ENST00000261584.9, ENST00000561514.3, ENST00000697376.1, ENST00000697383.1, ENST00000566069.6 )
PALB2 p.Gly1166ValfsTer25 (p.G1166Vfs*25) ( ENST00000261584.9, ENST00000561514.3, ENST00000566069.6, ENST00000568219.5, ENST00000697374.1, ENST00000697376.1, ENST00000697377.2, ENST00000697379.2, ENST00000697383.1, ENST00000713774.1 )
PALB2 p.Asn1039IlefsTer2 (p.N1039Ifs*2) ( ENST00000261584.9, ENST00000561514.3, ENST00000566069.6, ENST00000568219.5, ENST00000697374.1, ENST00000697376.1, ENST00000697377.2, ENST00000697379.2, ENST00000697383.1, ENST00000713774.1 )
PALB2 p.Phe440LeufsTer12 (p.F440Lfs*12) ( ENST00000261584.9, ENST00000561514.3, ENST00000566069.6, ENST00000568219.5, ENST00000697374.1, ENST00000697376.1, ENST00000697377.2, ENST00000697379.2, ENST00000697383.1, ENST00000713774.1 )
PALB2 p.Leu253IlefsTer3 (p.L253Ifs*3) ( ENST00000261584.9, ENST00000561514.3, ENST00000566069.6, ENST00000568219.5, ENST00000697374.1, ENST00000697376.1, ENST00000697377.2, ENST00000697379.2, ENST00000697383.1, ENST00000713774.1 )
PALB2 p.Arg170IlefsTer14 (p.R170Ifs*14) ( ENST00000261584.9, ENST00000561514.3, ENST00000566069.6, ENST00000568219.5, ENST00000697374.1, ENST00000697376.1, ENST00000697377.2, ENST00000697379.2, ENST00000697383.1, ENST00000713774.1 )
PALB2 p.Gln60ArgfsTer7 (p.Q60Rfs*7) ( ENST00000261584.9, ENST00000561514.3, ENST00000566069.6, ENST00000568219.5, ENST00000697374.1, ENST00000697376.1, ENST00000697377.2, ENST00000697379.2, ENST00000697383.1, ENST00000713774.1 )
PALB2 p.Arg26GlyfsTer7 (p.R26Gfs*7) ( ENST00000261584.9, ENST00000561514.3, ENST00000566069.6, ENST00000568219.5, ENST00000697374.1, ENST00000697376.1, ENST00000697377.2, ENST00000697379.2, ENST00000697383.1, ENST00000713774.1 )
PALB2 p.Tyr1183Ter (p.Y1183*) ( ENST00000568219.5, ENST00000713774.1, ENST00000697377.2, ENST00000697374.1, ENST00000566069.6, ENST00000697383.1, ENST00000561514.3, ENST00000697376.1, ENST00000697379.2, ENST00000261584.9 )
PALB2 p.Tyr1183Ter (p.Y1183*) ( ENST00000697377.2, ENST00000697374.1, ENST00000713774.1, ENST00000568219.5, ENST00000697379.2, ENST00000261584.9, ENST00000697383.1, ENST00000697376.1, ENST00000561514.3, ENST00000566069.6 )
PALB2 p.Arg1086Ter (p.R1086*) ( ENST00000261584.9, ENST00000568219.5, ENST00000566069.6, ENST00000561514.3, ENST00000697374.1, ENST00000697376.1, ENST00000697377.2, ENST00000697379.2, ENST00000697383.1, ENST00000713774.1 )
PALB2 c.2515-1G>T ( ENST00000697374.1, ENST00000697377.2, ENST00000713774.1, ENST00000568219.5, ENST00000697379.2, ENST00000261584.9, ENST00000561514.3, ENST00000697376.1, ENST00000697383.1, ENST00000566069.6 )
PALB2 c.2515-1G>C ( ENST00000568219.5, ENST00000697374.1, ENST00000697377.2, ENST00000713774.1, ENST00000566069.6, ENST00000261584.9, ENST00000697379.2, ENST00000697383.1, ENST00000561514.3, ENST00000697376.1 )
PALB2 p.Gln343Ter (p.Q343*) ( ENST00000568219.5, ENST00000697377.2, ENST00000697374.1, ENST00000713774.1, ENST00000566069.6, ENST00000697379.2, ENST00000261584.9, ENST00000697383.1, ENST00000561514.3, ENST00000697376.1 )
PALB2 p.Tyr1183Ter (p.Y1183*) ( ENST00000261584.9, ENST00000561514.3, ENST00000566069.6, ENST00000568219.5, ENST00000697374.1, ENST00000697376.1, ENST00000697377.2, ENST00000697379.2, ENST00000697383.1, ENST00000713774.1 )
PALB2 p.Tyr1183Ter (p.Y1183*) ( ENST00000261584.9, ENST00000561514.3, ENST00000566069.6, ENST00000568219.5, ENST00000697374.1, ENST00000697376.1, ENST00000697377.2, ENST00000697379.2, ENST00000697383.1, ENST00000713774.1 )
PALB2 p.Arg1086Ter (p.R1086*) ( ENST00000261584.9, ENST00000561514.3, ENST00000566069.6, ENST00000568219.5, ENST00000697374.1, ENST00000697376.1, ENST00000697377.2, ENST00000697379.2, ENST00000697383.1, ENST00000713774.1 )
PALB2 c.2515-1G>T ( ENST00000261584.9, ENST00000561514.3, ENST00000566069.6, ENST00000568219.5, ENST00000697374.1, ENST00000697376.1, ENST00000697377.2, ENST00000697379.2, ENST00000697383.1, ENST00000713774.1 )
PALB2 c.2515-1G>C ( ENST00000261584.9, ENST00000561514.3, ENST00000566069.6, ENST00000568219.5, ENST00000697374.1, ENST00000697376.1, ENST00000697377.2, ENST00000697379.2, ENST00000697383.1, ENST00000713774.1 )
PALB2 p.Gln343Ter (p.Q343*) ( ENST00000261584.9, ENST00000561514.3, ENST00000566069.6, ENST00000568219.5, ENST00000697374.1, ENST00000697376.1, ENST00000697377.2, ENST00000697379.2, ENST00000697383.1, ENST00000713774.1 ) - Associated Disease
- Pancreatic cancer, susceptibility to, 3
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.12
- Year of publication
- NA
Drugs