Annotation Detail
Information
- Associated Genes
- CHEK2
- Associated Variants
-
CHEK2 p.Ser465ValfsTer15 (p.S465Vfs*15)
(
ENST00000348295.7,
ENST00000382580.6,
ENST00000402731.6,
ENST00000403642.5,
ENST00000404276.6,
ENST00000405598.5,
ENST00000425190.7,
ENST00000464581.6,
ENST00000649563.1,
ENST00000650281.1 )
CHEK2 p.Thr410MetfsTer15 (p.T410Mfs*15) ( ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000464581.6, ENST00000649563.1, ENST00000650281.1 )
CHEK2 p.Glu204del (p.E204del) ( ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000649563.1, ENST00000650281.1 )
CHEK2 p.Trp93GlyfsTer44 (p.W93Gfs*44) ( ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000649563.1, ENST00000650281.1 )
CHEK2 p.Ser465ValfsTer15 (p.S465Vfs*15) ( ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000464581.6, ENST00000649563.1, ENST00000650281.1 )
CHEK2 p.Thr410MetfsTer15 (p.T410Mfs*15) ( ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000464581.6, ENST00000649563.1, ENST00000650281.1 )
CHEK2 p.Glu204del (p.E204del) ( ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000649563.1, ENST00000650281.1 )
CHEK2 p.Trp93GlyfsTer44 (p.W93Gfs*44) ( ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000649563.1, ENST00000650281.1 )
CHEK2 p.Thr519Met (p.T519M) ( ENST00000404276.6, ENST00000425190.7, ENST00000403642.5, ENST00000348295.7, ENST00000405598.5, ENST00000402731.6, ENST00000464581.6, ENST00000382580.6, ENST00000650281.1, ENST00000649563.1 )
CHEK2 p.Ser471Phe (p.S471F) ( ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000464581.6, ENST00000649563.1, ENST00000650281.1 )
CHEK2 p.His414Tyr (p.H414Y) ( ENST00000425190.7, ENST00000403642.5, ENST00000382580.6, ENST00000405598.5, ENST00000404276.6, ENST00000402731.6, ENST00000464581.6, ENST00000348295.7, ENST00000650281.1, ENST00000649563.1 )
CHEK2 c.722-1G>A ( ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000649563.1, ENST00000650281.1 )
CHEK2 p.Arg224Cys (p.R224C) ( ENST00000405598.5, ENST00000425190.7, ENST00000402731.6, ENST00000404276.6, ENST00000348295.7, ENST00000403642.5, ENST00000382580.6, ENST00000649563.1, ENST00000650281.1 )
CHEK2 p.Arg224Gly (p.R224G) ( ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000649563.1, ENST00000650281.1 )
CHEK2 p.Gly210Arg (p.G210R) ( ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000649563.1, ENST00000650281.1 )
CHEK2 p.Ile200Thr (p.I200T) ( ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000649563.1, ENST00000650281.1 )
CHEK2 c.573+1G>T ( ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000649563.1, ENST00000650281.1 )
CHEK2 c.573+1G>A ( ENST00000348295.7, ENST00000425190.7, ENST00000650281.1, ENST00000649563.1, ENST00000405598.5, ENST00000404276.6, ENST00000403642.5, ENST00000402731.6, ENST00000382580.6 )
CHEK2 p.Arg188Trp (p.R188W) ( ENST00000348295.7, ENST00000405598.5, ENST00000403642.5, ENST00000382580.6, ENST00000404276.6, ENST00000402731.6, ENST00000425190.7, ENST00000649563.1, ENST00000650281.1 )
CHEK2 p.Trp93Ter (p.W93*) ( ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000649563.1, ENST00000650281.1 )
CHEK2 p.Pro85Leu (p.P85L) ( ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000649563.1, ENST00000650281.1 )
CHEK2 p.Glu64Lys (p.E64K) ( ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000649563.1, ENST00000650281.1 )
CHEK2 p.Gln51Ter (p.Q51*) ( ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000649563.1, ENST00000650281.1 )
CHEK2 p.Thr519Met (p.T519M) ( ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000464581.6, ENST00000649563.1, ENST00000650281.1 )
CHEK2 p.Ser471Phe (p.S471F) ( ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000464581.6, ENST00000649563.1, ENST00000650281.1 )
CHEK2 p.His414Tyr (p.H414Y) ( ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000464581.6, ENST00000649563.1, ENST00000650281.1 )
CHEK2 c.722-1G>A ( ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000649563.1, ENST00000650281.1 )
CHEK2 p.Arg224Cys (p.R224C) ( ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000649563.1, ENST00000650281.1 )
CHEK2 p.Arg224Gly (p.R224G) ( ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000649563.1, ENST00000650281.1 )
CHEK2 p.Gly210Arg (p.G210R) ( ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000649563.1, ENST00000650281.1 )
CHEK2 p.Ile200Thr (p.I200T) ( ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000649563.1, ENST00000650281.1 )
CHEK2 c.573+1G>T ( ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000649563.1, ENST00000650281.1 )
CHEK2 c.573+1G>A ( ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000649563.1, ENST00000650281.1 )
CHEK2 p.Arg188Trp (p.R188W) ( ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000649563.1, ENST00000650281.1 )
CHEK2 p.Trp93Ter (p.W93*) ( ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000649563.1, ENST00000650281.1 )
CHEK2 p.Pro85Leu (p.P85L) ( ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000649563.1, ENST00000650281.1 )
CHEK2 p.Glu64Lys (p.E64K) ( ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000649563.1, ENST00000650281.1 )
CHEK2 p.Gln51Ter (p.Q51*) ( ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000649563.1, ENST00000650281.1 ) - Associated Disease
- Breast Cancer, Familial
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.127328930546168
- Year of publication
- NA
Drugs