AMT Chromosome 3

Aminomethyltransferase
154 variants 154 Health Risk

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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
RS121964981 Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy 2, Glycine encephalopathy
RS121964984 Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy 2, Glycine encephalopathy 1
RS1366977126 Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy 1, Glycine encephalopathy
RS138259479 Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, AMT-related disorder, Glycine encephalopathy
RS141246107 Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, AMT-related disorder, Glycine encephalopathy
RS141324034 Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS1434994550 Health Risk Conflicting classifications of pathogenicity —
RS144241950 Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Inborn genetic diseases, Glycine encephalopathy
RS145194293 Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS145243292 Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS147006017 Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS148917929 Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS149457059 Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS183396486 Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS200550585 Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy 2, Glycine encephalopathy
RS201141125 Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Inborn genetic diseases, Glycine encephalopathy 2
RS201233398 Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Inborn genetic diseases, Glycine encephalopathy
RS2049050015 Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS2049051428 Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS34812788 Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS367726589 Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, AMT-related disorder, Glycine encephalopathy
RS368129012 Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, AMT-related disorder, Glycine encephalopathy 2
RS372496075 Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Inborn genetic diseases, Glycine encephalopathy
RS376366324 Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Inborn genetic diseases, Glycine encephalopathy
RS386833677 Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Neurodevelopmental delay, Glycine encephalopathy 1
RS555045517 Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, AMT-related disorder, Glycine encephalopathy
RS753221440 Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS761235679 Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS763223038 Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy 1, Glycine encephalopathy
RS766422988 Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS768510463 Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy 1, Glycine encephalopathy
RS768940499 Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy 1, Glycine encephalopathy
RS1039165645 Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1056820947 Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 1, Glycine encephalopathy
RS1167886830 Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 1, Glycine encephalopathy
RS121964982 Health Risk Likely pathogenic Glycine encephalopathy, Inborn genetic diseases, Glycine encephalopathy 1
RS1238918084 Health Risk Likely pathogenic Glycine encephalopathy 1, Glycine encephalopathy 1
RS1352631535 Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 2, Glycine encephalopathy
RS1467607949 Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy, Glycine encephalopathy
RS1553638405 Health Risk Likely pathogenic Glycine encephalopathy 1, Glycine encephalopathy 1
RS1553638408 Health Risk Likely pathogenic Glycine encephalopathy 1, Glycine encephalopathy 1
RS1553638457 Health Risk Likely pathogenic Glycine encephalopathy, Inborn genetic diseases, Glycine encephalopathy 1
RS1553638460 Health Risk Likely pathogenic Glycine encephalopathy 1, Glycine encephalopathy 1
RS1553638463 Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1553638649 Health Risk Likely pathogenic Glycine encephalopathy 1, Glycine encephalopathy 1
RS1575308129 Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2049119534 Health Risk Likely pathogenic Glycine encephalopathy 1, Glycine encephalopathy 1
RS2049123051 Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2107932966 Health Risk Likely pathogenic Glycine encephalopathy 2, Glycine encephalopathy 2
RS2107933731 Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
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