JPH2 - Gene browser | 3billion

JPH2

JPH2

junctophilin 2

HCNC Approved Symbol: JPH2 (HGNC:14202)
Genomic Coordinates: 20:44,106,590 - 44,187,188 (20q13.12)
Synonyms: JP-2, JP2
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the JPH2 gene.

Frequently observed phenotypes(Top 5 only)

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

01
Patient count

Cardiomyopathy, hypertrophic: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Diabetes mellitus: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)

Last updated: 2024-06-30

JPH2 - Gene browser | 3billion