AMT aminomethyltransferase

Information
Symbol
AMT
Type
protein-coding
Description
aminomethyltransferase
Entrez Gene ID
275
Genome
hg19
Position
chr3:49,454,211-49,459,906
Genome
hg38
Position
chr3:49,416,778-49,422,473
MIM
238310 OMIM
HGNC
HGNC:473 HGNC
Ensembl
ENSG00000145020 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 27 144
Likely pathogenic 1 158
Benign 0 26
Likely benign 0 640
Conflicting classifications of pathogenicity 0 70
Uncertain significance 1 376
Ranking
ClinVar
0
0
188
1,082
16
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM GCE
SYNONYM GCE2
SYNONYM GCST
SYNONYM GCVT
SYNONYM NKH
MIM 238310 OMIM
HGNC HGNC:473 HGNC
Ensembl ENSG00000145020 Ensembl
AllianceGenome HGNC:473
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000637682.1 hg38 chr3 49,416,780 49,422,457 5,678
ENST00000427987.6 hg38 chr3 49,416,853 49,422,458 5,606
ENST00000538581.6 hg38 chr3 49,416,779 49,422,529 5,751
ENST00000636597.1 hg38 chr3 49,416,801 49,422,491 5,691
ENST00000636199.1 hg38 chr3 49,416,778 49,422,460 5,683
ENST00000458307.6 hg38 chr3 49,416,779 49,422,469 5,691
ENST00000636865.1 hg38 chr3 49,416,829 49,422,467 5,639
ENST00000636522.1 hg38 chr3 49,416,987 49,422,473 5,487
ENST00000273588.9 hg38 chr3 49,416,778 49,422,473 5,696
ENST00000395338.7 hg38 chr3 49,416,778 49,422,554 5,777
ENST00000638063.1 hg38 chr3 49,416,898 49,422,460 5,563
ENST00000635808.1 hg38 chr3 49,416,837 49,422,473 5,637
ENST00000636199.1 hg19 chr3 49,454,211 49,459,893 5,683
ENST00000273588.9 hg19 chr3 49,454,211 49,459,906 5,696
ENST00000395338.7 hg19 chr3 49,454,211 49,459,987 5,777
ENST00000427987.6 hg19 chr3 49,454,286 49,459,891 5,606
ENST00000458307.6 hg19 chr3 49,454,212 49,459,902 5,691
ENST00000636522.1 hg19 chr3 49,454,420 49,459,906 5,487
ENST00000636597.1 hg19 chr3 49,454,234 49,459,924 5,691
ENST00000538581.6 hg19 chr3 49,454,212 49,459,962 5,751
ENST00000637682.1 hg19 chr3 49,454,213 49,459,890 5,678
ENST00000635808.1 hg19 chr3 49,454,270 49,459,906 5,637
ENST00000636865.1 hg19 chr3 49,454,262 49,459,900 5,639
ENST00000638063.1 hg19 chr3 49,454,331 49,459,893 5,563
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