Annotation Detail
Information
- Associated Genes
- CASR
- Associated Variants
-
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.Arg227Gln (p.R227Q) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Arg227Leu (p.R227L) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 ) - Associated Disease
- HYPERPARATHYROIDISM, NEONATAL SEVERE
- Source Database
- DisGeNET
- Description
- Functional characterization of calcium-sensing receptor codon 227 mutations presenting as either familial (benign) hypocalciuric hypercalcemia or neonatal hyperparathyroidism.
- Pubmed
- 15572418
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.56
- Year of publication
- 2005
Drugs