OBSCN - Gene browser | 3billion

OBSCN

OBSCN

obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF

HCNC Approved Symbol: OBSCN (HGNC:15719)
Genomic Coordinates: 1:228,208,044 - 228,378,876 (1q42.13)
Synonyms: KIAA1556, UNC89, KIAA1639, ARHGEF30
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 OBSCN 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

Rhabdomyolysis: 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

OBSCN - Gene browser | 3billion