ASPHD1
Chr 16aspartate beta-hydroxylase domain containing 1
The ASPHD1 protein is predicted to function as a dioxygenase and localizes to cellular membranes. Mutations in this gene cause developmental and epileptic encephalopathy, with patients typically presenting with early-onset seizures, developmental delay, and intellectual disability. This gene follows an autosomal recessive inheritance pattern and shows minimal constraint against loss-of-function variants.
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ASPHD1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools