GUK1 guanylate kinase 1

Information
Symbol
GUK1
Type
protein-coding
Description
guanylate kinase 1
Entrez Gene ID
2987
Genome
hg19
Position
chr1:228,327,991-228,336,656
Genome
hg38
Position
chr1:228,140,290-228,148,955
MIM
139270 OMIM
HGNC
HGNC:4693 HGNC
Ensembl
ENSG00000143774 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 4
Uncertain significance 0 34
Ranking
ClinVar
0
0
0
38
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 :
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 GMK
MIM 139270 OMIM
HGNC HGNC:4693 HGNC
Ensembl ENSG00000143774 Ensembl
AllianceGenome HGNC:4693
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000366723.5 hg38 chr1 228,140,302 228,148,833 8,532
ENST00000366728.6 hg38 chr1 228,140,290 228,148,955 8,666
ENST00000366730.5 hg38 chr1 228,139,962 228,148,840 8,879
ENST00000453943.6 hg38 chr1 228,140,279 228,148,951 8,673
ENST00000366730.5 hg19 chr1 228,327,663 228,336,541 8,879
ENST00000366723.5 hg19 chr1 228,328,003 228,336,534 8,532
ENST00000366728.6 hg19 chr1 228,327,991 228,336,656 8,666
ENST00000453943.6 hg19 chr1 228,327,980 228,336,652 8,673
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