AVPR2 - Gene browser

AVPR2

arginine vasopressin receptor 2

HCNC Approved Symbol: AVPR2 (HGNC:897)
Genomic Coordinates: 23:153,902,625 - 153,907,166 (Xq28)
Synonyms: V2R, DIR3, DIR
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

11Patients

In total, 11 patients were diagnosed with a variant in the AVPR2 gene.

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

011
Patient count

Hyponatremia: 6 (54.5%)
Patient Count: 6 (54.5%)
% of total patients presenting each phenotype is shown in parentheses.
6 (54.5%)
Diabetes insipidus: 3 (27.3%)
Patient Count: 3 (27.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (27.3%)
Nephrogenic diabetes insipidus: 3 (27.3%)
Patient Count: 3 (27.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (27.3%)
Seizures: 3 (27.3%)
Patient Count: 3 (27.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (27.3%)
Hypernatremia: 3 (27.3%)
Patient Count: 3 (27.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (27.3%)