Annotation Detail
Information
- Associated Genes
- PALB2
- Associated Variants
-
PALB2 p.Tyr1108SerfsTer16 (p.Y1108Sfs*16)
(
ENST00000568219.5,
ENST00000713774.1,
ENST00000697377.2,
ENST00000697374.1,
ENST00000566069.6,
ENST00000697376.1,
ENST00000561514.3,
ENST00000697383.1,
ENST00000261584.9,
ENST00000697379.2 )
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.Thr841GlnfsTer10 (p.T841Qfs*10) ( ENST00000568219.5, ENST00000697374.1, ENST00000697377.2, ENST00000713774.1, ENST00000566069.6, ENST00000261584.9, ENST00000697379.2, ENST00000697383.1, ENST00000561514.3, ENST00000697376.1 )
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.Val132AlafsTer45 (p.V132Afs*45) ( ENST00000566069.6, ENST00000261584.9, ENST00000697379.2, ENST00000697383.1, ENST00000561514.3, ENST00000697376.1, ENST00000568219.5, ENST00000697377.2, ENST00000697374.1, ENST00000713774.1 )
PALB2 p.Tyr1108SerfsTer16 (p.Y1108Sfs*16) ( 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.Thr841GlnfsTer10 (p.T841Qfs*10) ( 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.Val132AlafsTer45 (p.V132Afs*45) ( ENST00000261584.9, ENST00000561514.3, ENST00000566069.6, ENST00000568219.5, ENST00000697374.1, ENST00000697376.1, ENST00000697377.2, ENST00000697379.2, ENST00000697383.1, ENST00000713774.1 )
PALB2 p.Gln559ArgfsTer2 (p.Q559Rfs*2) ( ENST00000566069.6, ENST00000697383.1, ENST00000697376.1, ENST00000561514.3, ENST00000697379.2, ENST00000261584.9, ENST00000568219.5, ENST00000713774.1, ENST00000697374.1, ENST00000697377.2 )
PALB2 p.Gln559ArgfsTer2 (p.Q559Rfs*2) ( 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.Gln988Ter (p.Q988*) ( ENST00000568219.5, ENST00000713774.1, ENST00000697374.1, ENST00000697377.2, ENST00000566069.6, ENST00000561514.3, ENST00000697376.1, ENST00000697383.1, ENST00000261584.9, ENST00000697379.2 )
PALB2 p.Tyr551Ter (p.Y551*) ( ENST00000697379.2, ENST00000261584.9, ENST00000697376.1, ENST00000561514.3, ENST00000697383.1, ENST00000566069.6, ENST00000697377.2, ENST00000697374.1, ENST00000713774.1, ENST00000568219.5 )
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.Gln988Ter (p.Q988*) ( ENST00000261584.9, ENST00000561514.3, ENST00000566069.6, ENST00000568219.5, ENST00000697374.1, ENST00000697376.1, ENST00000697377.2, ENST00000697379.2, ENST00000697383.1, ENST00000713774.1 )
PALB2 p.Tyr551Ter (p.Y551*) ( ENST00000261584.9, ENST00000561514.3, ENST00000566069.6, ENST00000568219.5, ENST00000697374.1, ENST00000697376.1, ENST00000697377.2, ENST00000697379.2, ENST00000697383.1, ENST00000713774.1 )
PALB2 p.Thr799LeufsTer53 (p.T799Lfs*53)
PALB2 p.Thr799LeufsTer53 (p.T799Lfs*53) - Associated Disease
- FANCONI ANEMIA, COMPLEMENTATION GROUP N
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.24
- Year of publication
- NA
Drugs