GCHFR GTP cyclohydrolase I feedback regulator

Information
Symbol
GCHFR
Type
protein-coding
Description
GTP cyclohydrolase I feedback regulator
Entrez Gene ID
2644
Genome
hg19
Position
chr15:41,056,266-41,059,906
Genome
hg38
Position
chr15:40,764,068-40,767,708
MIM
602437 OMIM
HGNC
HGNC:4194 HGNC
Ensembl
ENSG00000137880 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 4
Ranking
ClinVar
0
0
0
4
0
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 :
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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 GFRP
SYNONYM HsT16933
SYNONYM P35
MIM 602437 OMIM
HGNC HGNC:4194 HGNC
Ensembl ENSG00000137880 Ensembl
AllianceGenome HGNC:4194
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000561160.1 hg38 chr15 40,764,104 40,766,285 2,182
ENST00000559932.1 hg38 chr15 40,764,426 40,767,642 3,217
ENST00000260447.6 hg38 chr15 40,764,068 40,767,708 3,641
ENST00000558670.1 hg38 chr15 40,764,123 40,767,543 3,421
ENST00000558467.1 hg38 chr15 40,765,620 40,767,708 2,089
ENST00000559445.1 hg38 chr15 40,764,127 40,767,699 3,573
ENST00000260447.6 hg19 chr15 41,056,266 41,059,906 3,641
ENST00000561160.1 hg19 chr15 41,056,302 41,058,483 2,182
ENST00000558670.1 hg19 chr15 41,056,321 41,059,741 3,421
ENST00000559445.1 hg19 chr15 41,056,325 41,059,897 3,573
ENST00000559932.1 hg19 chr15 41,056,624 41,059,840 3,217
ENST00000558467.1 hg19 chr15 41,057,818 41,059,906 2,089
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