AMT Chromosome 3
Aminomethyltransferase
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What This Gene Does
This gene encodes one of four critical components of the glycine cleavage system. Mutations in this gene have been associated with glycine encephalopathy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
Gene Info
Gene Group
"Small molecule methyltransferases|Methyltransferases with unique structures"
Locus Type
gene with protein product
Location
3p21.31
Ensembl
ENSG00000145020
Associated Conditions (7)
Glycine encephalopathy
Glycine encephalopathy 2
Glycine encephalopathy 1
AMT-related disorder
Inborn genetic diseases
Neurodevelopmental delay
See cases
Key Variants
RS121964981
Conflicting classifications of pathogenicity
Glycine encephalopathy, Glycine encephalopathy 2, Glycine encephalopathy
Health Risk
RS121964984
Conflicting classifications of pathogenicity
Glycine encephalopathy, Glycine encephalopathy 2, Glycine encephalopathy 1
Health Risk
RS1366977126
Conflicting classifications of pathogenicity
Glycine encephalopathy, Glycine encephalopathy 1, Glycine encephalopathy
Health Risk
RS138259479
Conflicting classifications of pathogenicity
Glycine encephalopathy, AMT-related disorder, Glycine encephalopathy
Health Risk
RS141246107
Conflicting classifications of pathogenicity
Glycine encephalopathy, AMT-related disorder, Glycine encephalopathy
Health Risk
RS141324034
Conflicting classifications of pathogenicity
Glycine encephalopathy, Glycine encephalopathy
Health Risk
RS1434994550
Conflicting classifications of pathogenicity
Health Risk
RS144241950
Conflicting classifications of pathogenicity
Glycine encephalopathy, Inborn genetic diseases, Glycine encephalopathy
Health Risk
RS145194293
Conflicting classifications of pathogenicity
Glycine encephalopathy, Glycine encephalopathy
Health Risk
RS145243292
Conflicting classifications of pathogenicity
Glycine encephalopathy, Glycine encephalopathy
Health Risk
RS147006017
Conflicting classifications of pathogenicity
Glycine encephalopathy, Glycine encephalopathy
Health Risk
RS148917929
Conflicting classifications of pathogenicity
Glycine encephalopathy, Glycine encephalopathy
Health Risk
All Variants (154)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS757918826 | Health Risk | Pathogenic/Likely pathogenic | Glycine encephalopathy, Glycine encephalopathy 2, Glycine encephalopathy 1 |
| RS773988915 | Health Risk | Pathogenic/Likely pathogenic | Glycine encephalopathy, Glycine encephalopathy 1, Glycine encephalopathy 2 |
| RS779483959 | Health Risk | Pathogenic/Likely pathogenic | Glycine encephalopathy, Glycine encephalopathy 1, Glycine encephalopathy 2 |
| RS866625610 | Health Risk | Pathogenic/Likely pathogenic | Glycine encephalopathy, Glycine encephalopathy 2, Glycine encephalopathy 1 |