Annotation Detail
Information
- Associated Genes
- PRSS1
- Associated Variants
-
CFTR p.Arg117His (p.R117H)
(
ENST00000003084.11,
ENST00000648260.1,
ENST00000649406.1,
ENST00000649781.2,
ENST00000699596.1,
ENST00000699597.1,
ENST00000699602.1,
ENST00000699605.1 )
CFTR p.Arg117Pro (p.R117P) ( ENST00000003084.11, ENST00000648260.1, ENST00000649406.1, ENST00000649781.2, ENST00000699596.1, ENST00000699597.1, ENST00000699602.1, ENST00000699605.1 )
CFTR p.Arg117Leu (p.R117L) ( ENST00000003084.11, ENST00000648260.1, ENST00000649406.1, ENST00000649781.2, ENST00000699596.1, ENST00000699597.1, ENST00000699602.1, ENST00000699605.1 )
CFTR p.Leu327Arg (p.L327R) ( ENST00000003084.11, ENST00000648260.1, ENST00000649406.1, ENST00000649781.2, ENST00000699596.1, ENST00000699597.1, ENST00000699602.1, ENST00000699605.1 )
PRSS1 p.Arg116His (p.R116H) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 )
PRSS1 p.Arg116Pro (p.R116P) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 )
PRSS1 p.Arg116Leu (p.R116L) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 )
CFTR p.Arg117His (p.R117H) ( ENST00000003084.11, ENST00000648260.1, ENST00000649406.1, ENST00000649781.2, ENST00000699596.1, ENST00000699597.1, ENST00000699602.1, ENST00000699605.1 )
CFTR p.Arg117Pro (p.R117P) ( ENST00000003084.11, ENST00000648260.1, ENST00000649406.1, ENST00000649781.2, ENST00000699596.1, ENST00000699597.1, ENST00000699602.1, ENST00000699605.1 )
CFTR p.Arg117Leu (p.R117L) ( ENST00000003084.11, ENST00000648260.1, ENST00000649406.1, ENST00000649781.2, ENST00000699596.1, ENST00000699597.1, ENST00000699602.1, ENST00000699605.1 )
CFTR p.Leu327Arg (p.L327R) ( ENST00000003084.11, ENST00000648260.1, ENST00000649406.1, ENST00000649781.2, ENST00000699596.1, ENST00000699597.1, ENST00000699602.1, ENST00000699605.1 )
PRSS1 p.Arg116His (p.R116H) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 )
PRSS1 p.Arg116Pro (p.R116P) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 )
PRSS1 p.Arg116Leu (p.R116L) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 ) - Associated Disease
- Hereditary pancreatitis
- Source Database
- DisGeNET
- Description
- However, neither the R117H nor the N21L mutation in the cationic trypsinogen were found in the HP family with the L327R alteration in CFTR.
- Pubmed
- 10653140
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.268229954696352
- Year of publication
- 2000
Drugs