CHAT Chromosome 10
Choline O-acetyltransferase
Upload your DNA to see your personal genotypes for variants in CHAT.
What This Gene Does
This gene encodes an enzyme which catalyzes the biosynthesis of the neurotransmitter acetylcholine. This gene product is a characteristic feature of cholinergic neurons, and changes in these neurons may explain some of the symptoms of Alzheimer's disease. Polymorphisms in this gene have been associated with Alzheimer's disease and mild cognitive impairment. Mutations in this gene are associated with congenital myasthenic syndrome associated with episodic apnea. Multiple transcript variants encoding different isoforms have been found for this gene, and some of these variants have been shown to encode more than one isoform. [provided by RefSeq, May 2010]
Gene Info
Gene Group
Choline/carnitine acyltransferase family
Locus Type
gene with protein product
Location
10q11.23
Ensembl
ENSG00000070748
Associated Conditions (7)
Familial infantile myasthenia
Inborn genetic diseases
Congenital myasthenic syndrome
CHAT-related disorder
11 conditions
Abnormality of the musculature
Congenital myasthenic syndrome 4C
Key Variants
RS114545628
Conflicting classifications of pathogenicity
Familial infantile myasthenia, Familial infantile myasthenia
Health Risk
RS114719193
Conflicting classifications of pathogenicity
Familial infantile myasthenia, Familial infantile myasthenia
Health Risk
RS115877658
Conflicting classifications of pathogenicity
Familial infantile myasthenia, Inborn genetic diseases, Familial infantile myasthenia
Health Risk
RS116071049
Conflicting classifications of pathogenicity
Familial infantile myasthenia, Familial infantile myasthenia
Health Risk
RS1198717023
Conflicting classifications of pathogenicity
Familial infantile myasthenia, Familial infantile myasthenia
Health Risk
RS1384661323
Conflicting classifications of pathogenicity
Familial infantile myasthenia, Familial infantile myasthenia
Health Risk
RS141127966
Conflicting classifications of pathogenicity
Familial infantile myasthenia, Inborn genetic diseases, Familial infantile myasthenia
Health Risk
RS142285373
Conflicting classifications of pathogenicity
Familial infantile myasthenia, Inborn genetic diseases, Familial infantile myasthenia
Health Risk
RS143723043
Conflicting classifications of pathogenicity
Familial infantile myasthenia, Familial infantile myasthenia
Health Risk
RS147815999
Conflicting classifications of pathogenicity
Familial infantile myasthenia, Familial infantile myasthenia
Health Risk
RS148155075
Conflicting classifications of pathogenicity
Familial infantile myasthenia, Inborn genetic diseases, Familial infantile myasthenia
Health Risk
RS148525631
Conflicting classifications of pathogenicity
Familial infantile myasthenia, Inborn genetic diseases, Familial infantile myasthenia
Health Risk
All Variants (128)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS369251527 | Health Risk | Pathogenic | Familial infantile myasthenia, Congenital myasthenic syndrome, Familial infantile myasthenia |
| RS75466054 | Health Risk | Pathogenic | Familial infantile myasthenia, Congenital myasthenic syndrome, Familial infantile myasthenia |
| RS772025588 | Health Risk | Pathogenic | — |
| RS773268576 | Health Risk | Pathogenic | Familial infantile myasthenia, Familial infantile myasthenia, Familial infantile myasthenia |
| RS777684375 | Health Risk | Pathogenic | Familial infantile myasthenia, Familial infantile myasthenia |
| RS794727516 | Health Risk | Pathogenic | Familial infantile myasthenia, Familial infantile myasthenia |
| RS1207652491 | Health Risk | Pathogenic/Likely pathogenic | Familial infantile myasthenia, Familial infantile myasthenia |
| RS121912816 | Health Risk | Pathogenic/Likely pathogenic | Familial infantile myasthenia, Congenital myasthenic syndrome, Familial infantile myasthenia |
| RS121912819 | Health Risk | Pathogenic/Likely pathogenic | Familial infantile myasthenia, Congenital myasthenic syndrome, Familial infantile myasthenia |
| RS121912823 | Health Risk | Pathogenic/Likely pathogenic | Familial infantile myasthenia, Abnormality of the musculature, Familial infantile myasthenia |
| RS1279554995 | Health Risk | Pathogenic/Likely pathogenic | Familial infantile myasthenia, Congenital myasthenic syndrome, Familial infantile myasthenia |
| RS1296550963 | Health Risk | Pathogenic/Likely pathogenic | Familial infantile myasthenia, Familial infantile myasthenia |
| RS1458796820 | Health Risk | Pathogenic/Likely pathogenic | Familial infantile myasthenia, Familial infantile myasthenia |
| RS1590576560 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 4C, Familial infantile myasthenia, Congenital myasthenic syndrome 4C |
| RS1838635016 | Health Risk | Pathogenic/Likely pathogenic | Familial infantile myasthenia, Familial infantile myasthenia |
| RS2496323700 | Health Risk | Pathogenic/Likely pathogenic | Familial infantile myasthenia, Familial infantile myasthenia |
| RS2538860938 | Health Risk | Pathogenic/Likely pathogenic | Familial infantile myasthenia, Familial infantile myasthenia |
| RS2538877767 | Health Risk | Pathogenic/Likely pathogenic | Familial infantile myasthenia, Familial infantile myasthenia |
| RS371470622 | Health Risk | Pathogenic/Likely pathogenic | Familial infantile myasthenia, Familial infantile myasthenia |
| RS372760913 | Health Risk | Pathogenic/Likely pathogenic | Familial infantile myasthenia, Congenital myasthenic syndrome, Familial infantile myasthenia |
| RS376808313 | Health Risk | Pathogenic/Likely pathogenic | Familial infantile myasthenia, Congenital myasthenic syndrome, Familial infantile myasthenia |
| RS746595362 | Health Risk | Pathogenic/Likely pathogenic | Familial infantile myasthenia, Familial infantile myasthenia |
| RS753652169 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 4C, Familial infantile myasthenia, Congenital myasthenic syndrome |
| RS757303526 | Health Risk | Pathogenic/Likely pathogenic | Familial infantile myasthenia, Familial infantile myasthenia, Familial infantile myasthenia |
| RS764497513 | Health Risk | Pathogenic/Likely pathogenic | Familial infantile myasthenia, Congenital myasthenic syndrome, Familial infantile myasthenia |
| RS769234940 | Health Risk | Pathogenic/Likely pathogenic | 11 conditions, Familial infantile myasthenia, 11 conditions |
| RS777679246 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome, Familial infantile myasthenia, Congenital myasthenic syndrome |
| RS778837182 | Health Risk | Pathogenic/Likely pathogenic | Familial infantile myasthenia, Familial infantile myasthenia |