CASR - Gene browser

CASR

calcium sensing receptor

HCNC Approved Symbol: CASR (HGNC:1514)
Genomic Coordinates: 3:122,183,668 - 122,291,629 (3q13.33-q21.1)
Synonyms: FHH, NSHPT, GPRC2A, HHC, HHC1
Disease Associations: This gene is associated with the following 5 diseases in OMIM.

7Patients

In total, 7 patients were diagnosed with a variant in the CASR gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

07
Patient count

Hypocalcemia: 2 (28.6%)
Patient Count: 2 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
2 (28.6%)
Hypoparathyroidism: 2 (28.6%)
Patient Count: 2 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
2 (28.6%)
Developmental delay: 2 (28.6%)
Patient Count: 2 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
2 (28.6%)
Hypercalcemia: 1 (14.3%)
Patient Count: 1 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (14.3%)
Hypocalciuria: 1 (14.3%)
Patient Count: 1 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (14.3%)