Annotation Detail
Information
- Associated Genes
- CASR
- Associated Variants
-
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.Pro39Ala (p.P39A) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 )
CASR p.Pro39Ser (p.P39S) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 ) - Associated Disease
- Hypocalciuric hypercalcemia, familial, type 1
- Source Database
- DisGeNET
- Description
- Functional capacity of CaSRQ459R and CaSR mutants causing FHH (Q27R, P39A, S417C) or neonatal severe hyperparathyroidism (W718X) was assessed.
- Pubmed
- 24517148
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.588425451698311
- Year of publication
- 2014
Drugs