Annotation Detail
Information
- Associated Genes
- CASR
- Associated Variants
-
CASR p.Glu56SerfsTer19 (p.E56Sfs*19)
(
ENST00000490131.7,
ENST00000498619.4,
ENST00000638421.1,
ENST00000639785.2 )
CASR p.Arg185GlnfsTer72 (p.R185Qfs*72) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Phe505ArgfsTer131 (p.F505Rfs*131) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Phe639LeufsTer69 (p.F639Lfs*69) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Glu56SerfsTer19 (p.E56Sfs*19) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Arg185GlnfsTer72 (p.R185Qfs*72) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Phe505ArgfsTer131 (p.F505Rfs*131) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Phe639LeufsTer69 (p.F639Lfs*69) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Cys572Ser (p.C572S) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Cys572Ser (p.C572S) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Gly36Arg (p.G36R) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Arg69His (p.R69H) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Asn90Thr (p.N90T) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Glu127Ala (p.E127A) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Glu127Gly (p.E127G) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Ser166Gly (p.S166G) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Asp215Asn (p.D215N) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Asp215His (p.D215H) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Gly325Glu (p.G325E) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Glu353Ala (p.E353A) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Arg415Gln (p.R415Q) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Gly509Arg (p.G509R) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Pro569His (p.P569H) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Pro569Leu (p.P569L) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Cys572Ser (p.C572S) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Pro682Thr (p.P682T) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Pro758Gln (p.P758Q) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Arg762Cys (p.R762C) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Leu822Pro (p.L822P) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Gly840Asp (p.G840D) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Lys892Ter (p.K892*) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Gly1041Ser (p.G1041S) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Gly36Arg (p.G36R) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Arg69His (p.R69H) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Asn90Thr (p.N90T) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Glu127Ala (p.E127A) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Glu127Gly (p.E127G) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Ser166Gly (p.S166G) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Asp215Asn (p.D215N) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Asp215His (p.D215H) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Gly325Glu (p.G325E) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Glu353Ala (p.E353A) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Arg415Gln (p.R415Q) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Gly509Arg (p.G509R) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Pro569His (p.P569H) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Pro569Leu (p.P569L) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Cys572Ser (p.C572S) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Pro682Thr (p.P682T) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Pro758Gln (p.P758Q) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Arg762Cys (p.R762C) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Leu822Pro (p.L822P) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Gly840Asp (p.G840D) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Lys892Ter (p.K892*) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Gly1041Ser (p.G1041S) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 ) - Associated Disease
- Hypocalciuric hypercalcemia, familial, type 1
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.588425451698311
- Year of publication
- NA
Drugs