GTPBP2 GTP binding protein 2

Information
Symbol
GTPBP2
Type
protein-coding
Description
GTP binding protein 2
Entrez Gene ID
54676
Genome
hg19
Position
chr6:43,588,231-43,597,001
Genome
hg38
Position
chr6:43,620,494-43,629,264
MIM
607434 OMIM
HGNC
HGNC:4670 HGNC
Ensembl
ENSG00000172432 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 18
Likely pathogenic 0 4
Benign 0 36
Likely benign 0 148
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 100
Ranking
ClinVar
0
0
24
268
12
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 JABELS
MIM 607434 OMIM
HGNC HGNC:4670 HGNC
Ensembl ENSG00000172432 Ensembl
AllianceGenome HGNC:4670
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000307126.10 hg38 chr6 43,620,494 43,629,264 8,771
ENST00000307114.11 hg38 chr6 43,620,482 43,627,353 6,872
ENST00000307114.11 hg19 chr6 43,588,219 43,595,090 6,872
ENST00000307126.10 hg19 chr6 43,588,231 43,597,001 8,771
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