MTR 5-methyltetrahydrofolate-homocysteine methyltransferase

Information
Symbol
MTR
Type
protein-coding
Description
5-methyltetrahydrofolate-homocysteine methyltransferase
Entrez Gene ID
4548
Genome
hg19
Position
chr1:236,958,592-237,067,281
Genome
hg38
Position
chr1:236,795,292-236,903,981
MIM
156570 OMIM
HGNC
HGNC:7468 HGNC
Ensembl
ENSG00000116984 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 94
Likely pathogenic 0 68
Benign 0 384
Likely benign 0 1,274
Conflicting classifications of pathogenicity 0 70
Uncertain significance 0 712
Ranking
ClinVar
0
0
254
2,208
12
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
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 HMAG
SYNONYM MS
SYNONYM cblG
MIM 156570 OMIM
HGNC HGNC:7468 HGNC
Ensembl ENSG00000116984 Ensembl
AllianceGenome HGNC:7468
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000681102.1 hg38 chr1 236,795,704 236,897,644 101,941
ENST00000535889.6 hg38 chr1 236,795,682 236,898,134 102,453
ENST00000674797.2 hg38 chr1 236,795,292 236,903,981 108,690
ENST00000679842.1 hg38 chr1 236,795,704 236,897,644 101,941
ENST00000366577.10 hg38 chr1 236,795,292 236,903,981 108,690
ENST00000681177.1 hg38 chr1 236,795,704 236,897,644 101,941
ENST00000366577.10 hg19 chr1 236,958,592 237,067,281 108,690
ENST00000535889.6 hg19 chr1 236,958,982 237,061,434 102,453
ENST00000674797.2 hg19 chr1 236,958,592 237,067,281 108,690
ENST00000681102.1 hg19 chr1 236,959,004 237,060,944 101,941
ENST00000679842.1 hg19 chr1 236,959,004 237,060,944 101,941
ENST00000681177.1 hg19 chr1 236,959,004 237,060,944 101,941
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