PRIMA1 Chromosome 14
Proline rich membrane anchor 1
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What This Gene Does
The product of this gene functions to organize acetylcholinesterase (AChE) into tetramers, and to anchor AChE at neural cell membranes. [provided by RefSeq, Nov 2008]
Associated Conditions (1)
Familial sleep-related hypermotor epilepsy
Key Variants
RS745490663
Conflicting classifications of pathogenicity
Familial sleep-related hypermotor epilepsy, Familial sleep-related hypermotor epilepsy
Health Risk
RS2141161066
Pathogenic
Familial sleep-related hypermotor epilepsy, Familial sleep-related hypermotor epilepsy
Health Risk
RS2503468051
Pathogenic
Familial sleep-related hypermotor epilepsy, Familial sleep-related hypermotor epilepsy
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS745490663 | Health Risk | Conflicting classifications of pathogenicity | Familial sleep-related hypermotor epilepsy, Familial sleep-related hypermotor epilepsy |
| RS2141161066 | Health Risk | Pathogenic | Familial sleep-related hypermotor epilepsy, Familial sleep-related hypermotor epilepsy |
| RS2503468051 | Health Risk | Pathogenic | Familial sleep-related hypermotor epilepsy, Familial sleep-related hypermotor epilepsy |