GPATCH8 G-patch domain containing 8

Information
Symbol
GPATCH8
Type
protein-coding
Description
G-patch domain containing 8
Entrez Gene ID
23131
Genome
hg19
Position
chr17:42,472,649-42,580,774
Genome
hg38
Position
chr17:44,395,281-44,503,406
MIM
614396 OMIM
HGNC
HGNC:29066 HGNC
Ensembl
ENSG00000186566 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Likely benign 0 10
Uncertain significance 0 156
Ranking
ClinVar
0
0
0
168
2
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 GPATC8
SYNONYM KIAA0553
MIM 614396 OMIM
HGNC HGNC:29066 HGNC
Ensembl ENSG00000186566 Ensembl
AllianceGenome HGNC:29066
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000591680.6 hg38 chr17 44,395,281 44,503,406 108,126
ENST00000591680.6 hg19 chr17 42,472,649 42,580,774 108,126
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