GGCX gamma-glutamyl carboxylase

Information
Symbol
GGCX
Type
protein-coding
Description
gamma-glutamyl carboxylase
Entrez Gene ID
2677
Genome
hg19
Position
chr2:85,771,843-85,788,616
Genome
hg38
Position
chr2:85,544,720-85,561,493
MIM
137167 OMIM
HGNC
HGNC:4247 HGNC
Ensembl
ENSG00000115486 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 56
Likely pathogenic 0 12
Benign 0 112
Likely benign 0 252
Conflicting classifications of pathogenicity 0 46
Uncertain significance 0 452
Ranking
ClinVar
0
0
86
754
20
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 VKCFD1
MIM 137167 OMIM
HGNC HGNC:4247 HGNC
Ensembl ENSG00000115486 Ensembl
AllianceGenome HGNC:4247
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000430215.7 hg38 chr2 85,549,830 85,561,532 11,703
ENST00000689276.1 hg38 chr2 85,549,082 85,561,436 12,355
ENST00000690595.1 hg38 chr2 85,549,089 85,561,501 12,413
ENST00000693287.1 hg38 chr2 85,549,082 85,561,493 12,412
ENST00000693681.1 hg38 chr2 85,549,089 85,561,523 12,435
ENST00000233838.9 hg38 chr2 85,544,720 85,561,493 16,774
ENST00000481541.1 hg38 chr2 85,558,584 85,561,493 2,910
ENST00000496962.2 hg38 chr2 85,558,725 85,561,520 2,796
ENST00000233838.9 hg19 chr2 85,771,843 85,788,616 16,774
ENST00000430215.7 hg19 chr2 85,776,953 85,788,655 11,703
ENST00000481541.1 hg19 chr2 85,785,707 85,788,616 2,910
ENST00000496962.2 hg19 chr2 85,785,848 85,788,643 2,796
ENST00000689276.1 hg19 chr2 85,776,205 85,788,559 12,355
ENST00000690595.1 hg19 chr2 85,776,212 85,788,624 12,413
ENST00000693287.1 hg19 chr2 85,776,205 85,788,616 12,412
ENST00000693681.1 hg19 chr2 85,776,212 85,788,646 12,435
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