Annotation Detail
Information
- Associated Genes
- CASR
- Associated Variants
-
CASR p.Ser830Phe (p.S830F)
(
ENST00000490131.7,
ENST00000498619.4,
ENST00000638421.1,
ENST00000639785.2 )
CASR p.Ser830Phe (p.S830F) ( ENST00000490131.7, ENST00000498619.4, ENST00000638421.1, ENST00000639785.2 ) - Associated Disease
- Hypoparathyroidism - autosomal dominant
- Source Database
- DisGeNET
- Description
- A family of autosomal dominant hypocalcemia with a positive correlation between serum calcium and magnesium: identification of a novel gain of function mutation (Ser(820)Phe) in the calcium-sensing receptor.
- Pubmed
- 12050233
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.130857674883212
- Year of publication
- 2002
Drugs