EA3

Chr 1AD

Episodic ataxia, type 3

Primary Disease Associations & Inheritance

Episodic ataxia, type 3MIM #606554
AD
1
Active trials
0
Pathogenic / LP
0
ClinVar variants
6
Pubs (1 yr)
Missense Z
LOEUF
Clinical SummaryEA3
💊
Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/EA3?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

EA3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Literature
Landmark / reviewRecent case evidence