ANKRD44 Chromosome 2
Ankyrin repeat domain 44
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What This Gene Does
Detailed gene summary not yet available. This gene has 1 known variant in our database.
Gene Info
Gene Group
"Ankyrin repeat domain containing|Protein phosphatase 6 regulatory subunits"
Locus Type
gene with protein product
Location
2q33.1
Ensembl
ENSG00000065413
Associated Conditions (3)
Neurodevelopmental disorder with hypotonia
seizures
and absent language
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2469332282 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia, seizures, and absent language |