DHFR dihydrofolate reductase

Information
Symbol
DHFR
Type
protein-coding
Description
dihydrofolate reductase
Entrez Gene ID
1719
Genome
hg19
Position
chr5:79,922,045-79,950,802
Genome
hg38
Position
chr5:80,626,226-80,654,983
MIM
126060 OMIM
HGNC
HGNC:2861 HGNC
Ensembl
ENSG00000228716 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 56
Likely pathogenic 0 40
Benign 0 60
Likely benign 0 436
Conflicting classifications of pathogenicity 0 24
not provided 1 0
Uncertain significance 7 624
Ranking
ClinVar
0
0
456
704
10
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 DHFR1
SYNONYM DHFRP1
SYNONYM DYR
MIM 126060 OMIM
HGNC HGNC:2861 HGNC
Ensembl ENSG00000228716 Ensembl
AllianceGenome HGNC:2861
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000511032.5 hg38 chr5 80,628,124 80,654,552 26,429
ENST00000505337.5 hg38 chr5 80,628,017 80,654,674 26,658
ENST00000504396.1 hg38 chr5 80,628,223 80,654,558 26,336
ENST00000439211.7 hg38 chr5 80,626,226 80,654,983 28,758
ENST00000439211.7 hg19 chr5 79,922,045 79,950,802 28,758
ENST00000505337.5 hg19 chr5 79,923,836 79,950,493 26,658
ENST00000511032.5 hg19 chr5 79,923,943 79,950,371 26,429
ENST00000504396.1 hg19 chr5 79,924,042 79,950,377 26,336
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