Annotation Detail
Information
- Associated Genes
- SPINK1
- Associated Variants
-
SPINK1 p.Ser10ValfsTer6 (p.S10Vfs*6)
(
ENST00000296695.10,
ENST00000510027.2 )
SPINK1 p.Ser10ValfsTer6 (p.S10Vfs*6) ( ENST00000296695.10, ENST00000510027.2 )
SPINK1 p.Arg67Cys (p.R67C) ( ENST00000296695.10 )
SPINK1 c.194+2T>C ( ENST00000296695.10, ENST00000510027.2 )
SPINK1 p.Pro55Ser (p.P55S) ( ENST00000296695.10, ENST00000510027.2 )
SPINK1 p.Pro55Ala (p.P55A) ( ENST00000296695.10, ENST00000510027.2 )
SPINK1 p.Tyr54His (p.Y54H) ( ENST00000296695.10, ENST00000510027.2 )
SPINK1 p.Asp50Glu (p.D50E) ( ENST00000296695.10, ENST00000510027.2 )
SPINK1 p.Asn34Ser (p.N34S) ( ENST00000510027.2, ENST00000296695.10 )
SPINK1 p.Leu14Arg (p.L14R) ( ENST00000296695.10, ENST00000510027.2 )
SPINK1 p.Leu14Pro (p.L14P) ( ENST00000296695.10, ENST00000510027.2 )
SPINK1 p.? (p.?) ( ENST00000296695.10, ENST00000510027.2 )
SPINK1 p.Arg67Cys (p.R67C) ( ENST00000296695.10 )
SPINK1 c.194+2T>C ( ENST00000296695.10, ENST00000510027.2 )
SPINK1 p.Pro55Ser (p.P55S) ( ENST00000296695.10, ENST00000510027.2 )
SPINK1 p.Pro55Ala (p.P55A) ( ENST00000296695.10, ENST00000510027.2 )
SPINK1 p.Tyr54His (p.Y54H) ( ENST00000296695.10, ENST00000510027.2 )
SPINK1 p.Asp50Glu (p.D50E) ( ENST00000296695.10, ENST00000510027.2 )
SPINK1 p.Asn34Ser (p.N34S) ( ENST00000296695.10, ENST00000510027.2 )
SPINK1 p.Leu14Arg (p.L14R) ( ENST00000296695.10, ENST00000510027.2 )
SPINK1 p.Leu14Pro (p.L14P) ( ENST00000296695.10, ENST00000510027.2 )
SPINK1 p.? (p.?) ( ENST00000296695.10, ENST00000510027.2 ) - Associated Disease
- Hereditary pancreatitis
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.244885953697445
- Year of publication
- NA
Drugs