Annotation Detail
Information
- Associated Genes
- CASR
- Associated Variants
-
CASR p.Leu13Pro (p.L13P)
(
ENST00000490131.7,
ENST00000498619.4,
ENST00000638421.1,
ENST00000639785.2 )
CASR p.Pro39Ala (p.P39A) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Pro39Ser (p.P39S) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Arg62Met (p.R62M) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR c.186-1G>T ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Arg66Cys (p.R66C) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Thr138Met (p.T138M) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Gly143Glu (p.G143E) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Phe180Cys (p.F180C) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Arg185Gln (p.R185Q) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Pro221Gln (p.P221Q) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Pro221Leu (p.P221L) ( ENST00000498619.4, ENST00000490131.7, ENST00000638421.1, ENST00000639785.2 )
CASR p.Arg227Gln (p.R227Q) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Arg227Leu (p.R227L) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Glu297Lys (p.E297K) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Arg465Gln (p.R465Q) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Gly563Arg (p.G563R) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Cys592Tyr (p.C592Y) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Cys592Phe (p.C592F) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Arg658Gly (p.R658G) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Arg658Ter (p.R658*) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Arg805Trp (p.R805W) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Leu13Pro (p.L13P) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Pro39Ala (p.P39A) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Pro39Ser (p.P39S) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Arg62Met (p.R62M) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR c.186-1G>T ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Arg66Cys (p.R66C) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Thr138Met (p.T138M) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Gly143Glu (p.G143E) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Phe180Cys (p.F180C) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Arg185Gln (p.R185Q) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Pro221Gln (p.P221Q) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Pro221Leu (p.P221L) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Arg227Gln (p.R227Q) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Arg227Leu (p.R227L) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Glu297Lys (p.E297K) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Arg465Gln (p.R465Q) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Gly563Arg (p.G563R) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Cys592Tyr (p.C592Y) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Cys592Phe (p.C592F) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Arg658Gly (p.R658G) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Arg658Ter (p.R658*) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Arg805Trp (p.R805W) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 ) - Associated Disease
- Familial benign hypercalcemia
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.240814325616241
- Year of publication
- NA
Drugs