Annotation Detail
Information
- Associated Genes
- CASR
- Associated Variants
-
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.Arg658Gly (p.R658G) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Arg658Ter (p.R658*) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 ) - Associated Disease
- Hypocalciuric hypercalcemia, familial, type 1
- Source Database
- DisGeNET
- Description
- This report is the first to show that an R648stop CaR mutation yields a truncated receptor that is expressed on the cell surface but is devoid of biological activity, resulting in FHH.
- Pubmed
- 12469911
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.588425451698311
- Year of publication
- 2002
Drugs