BCKDHA - Gene browser | 3billion

BCKDHA

BCKDHA

branched chain keto acid dehydrogenase E1 subunit alpha

HCNC Approved Symbol: BCKDHA (HGNC:986)
Genomic Coordinates: 19:41,397,818 - 41,425,002 (19q13.2)
Synonyms: MSU, OVD1A
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

2Patients

In total, 2 patients were diagnosed with a variant in the BCKDHA gene.

Frequently observed phenotypes(Top 5 only)

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

02
Patient count

Elevated plasma branched chain amino acids: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)

Last updated: 2024-06-30

BCKDHA - Gene browser | 3billion