JAK3 - Gene browser | 3billion

JAK3

JAK3

Janus kinase 3

HCNC Approved Symbol: JAK3 (HGNC:6193)
Genomic Coordinates: 19:17,824,782 - 17,847,982 (19p13.11)
Synonyms: L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the JAK3 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

Hepatosplenomegaly: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Pneumonia: 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

JAK3 - Gene browser | 3billion