MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase

Information
Symbol
MTRR
Type
protein-coding
Description
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
Entrez Gene ID
4552
Genome
hg19
Position
chr5:7,869,261-7,901,226
Genome
hg38
Position
chr5:7,869,148-7,901,113
MIM
602568 OMIM
HGNC
HGNC:7473 HGNC
Ensembl
ENSG00000124275 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 134
Likely pathogenic 0 128
Benign 0 178
Likely benign 0 1,012
Conflicting classifications of pathogenicity 0 46
Uncertain significance 0 410
Ranking
ClinVar
0
0
244
1,544
8
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 MSR
SYNONYM cblE
MIM 602568 OMIM
HGNC HGNC:7473 HGNC
Ensembl ENSG00000124275 Ensembl
AllianceGenome HGNC:7473
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000264668.6 hg38 chr5 7,869,104 7,901,124 32,021
ENST00000440940.7 hg38 chr5 7,869,148 7,901,113 31,966
ENST00000264668.6 hg19 chr5 7,869,217 7,901,237 32,021
ENST00000440940.7 hg19 chr5 7,869,261 7,901,226 31,966
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