GPKOW G-patch domain and KOW motifs

Information
Symbol
GPKOW
Type
protein-coding
Description
G-patch domain and KOW motifs
Entrez Gene ID
27238
Genome
hg19
Position
chrX:48,970,345-48,980,085
Genome
hg38
Position
chrX:49,113,407-49,123,735
MIM
301003 OMIM
HGNC
HGNC:30677 HGNC
Ensembl
ENSG00000068394 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 10
Likely benign 0 12
Conflicting classifications of pathogenicity 0 4
not provided 6 0
Uncertain significance 0 46
Ranking
ClinVar
0
0
4
62
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
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 GPATC5
SYNONYM GPATCH5
SYNONYM Mos2
SYNONYM Spp2
SYNONYM T54
MIM 301003 OMIM
HGNC HGNC:30677 HGNC
Ensembl ENSG00000068394 Ensembl
AllianceGenome HGNC:30677
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000156109.7 hg38 chrX 49,113,407 49,123,735 10,329
ENST00000156109.7 hg19 chrX 48,970,345 48,980,085 9,741
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