CYB5R3 - Gene browser | 3billion

CYB5R3

CYB5R3

cytochrome b5 reductase 3

HCNC Approved Symbol: CYB5R3 (HGNC:2873)
Genomic Coordinates: 22:42,617,840 - 42,649,392 (22q13.2)
Synonyms: B5R, DIA1
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 CYB5R3 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

Cyanotic episode: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Episodic fatigue: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Methemoglobinemia: 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

CYB5R3 - Gene browser | 3billion