MTHFR methylenetetrahydrofolate reductase

Information
Symbol
MTHFR
Type
protein-coding
Description
methylenetetrahydrofolate reductase
Entrez Gene ID
4524
Genome
hg19
Position
chr1:11,845,789-11,865,470
Genome
hg38
Position
chr1:11,785,732-11,805,413
MIM
607093 OMIM
HGNC
HGNC:7436 HGNC
Ensembl
ENSG00000177000 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 7 210
Likely pathogenic 0 170
Benign 0 98
Likely benign 0 846
Conflicting classifications of pathogenicity 0 60
drug response 0 2
Likely benign; other 0 4
not provided 1 6
Pathogenic; risk factor 0 2
Uncertain significance 0 352
Ranking
ClinVar
0
2
246
1,306
52
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
MIM 607093 OMIM
HGNC HGNC:7436 HGNC
Ensembl ENSG00000177000 Ensembl
AllianceGenome HGNC:7436
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000423400.7 hg38 chr1 11,790,068 11,803,526 13,459
ENST00000641407.1 hg38 chr1 11,790,349 11,803,383 13,035
ENST00000376583.7 hg38 chr1 11,785,730 11,803,514 17,785
ENST00000376585.6 hg38 chr1 11,785,732 11,805,413 19,682
ENST00000641820.1 hg38 chr1 11,790,642 11,796,545 5,904
ENST00000376592.6 hg38 chr1 11,785,723 11,805,413 19,691
ENST00000376590.9 hg38 chr1 11,785,723 11,805,964 20,242
ENST00000376590.9 hg19 chr1 11,845,780 11,866,021 20,242
ENST00000376583.7 hg19 chr1 11,845,787 11,863,571 17,785
ENST00000376585.6 hg19 chr1 11,845,789 11,865,470 19,682
ENST00000376592.6 hg19 chr1 11,845,780 11,865,470 19,691
ENST00000423400.7 hg19 chr1 11,850,125 11,863,583 13,459
ENST00000641407.1 hg19 chr1 11,850,406 11,863,440 13,035
ENST00000641820.1 hg19 chr1 11,850,699 11,856,602 5,904
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