GP6 glycoprotein VI platelet

Information
Symbol
GP6
Type
protein-coding
Description
glycoprotein VI platelet
Entrez Gene ID
51206
Genome
hg19
Position
chr19:55,525,073-55,549,632
Genome
hg38
Position
chr19:55,013,705-55,038,264
MIM
605546 OMIM
HGNC
HGNC:14388 HGNC
Ensembl
ENSG00000088053 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 20
Likely pathogenic 0 2
Benign 0 116
Likely benign 0 122
Conflicting classifications of pathogenicity 0 10
Uncertain significance 0 144
Ranking
ClinVar
0
0
70
324
4
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 BDPLT11
SYNONYM GPIV
SYNONYM GPVI
MIM 605546 OMIM
HGNC HGNC:14388 HGNC
Ensembl ENSG00000088053 Ensembl
AllianceGenome HGNC:14388
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000333884.2 hg38 chr19 55,013,705 55,038,264 24,560
ENST00000310373.7 hg38 chr19 55,013,705 55,038,264 24,560
ENST00000417454.5 hg38 chr19 55,013,705 55,038,264 24,560
ENST00000310373.7 hg19 chr19 55,525,073 55,549,632 24,560
ENST00000333884.2 hg19 chr19 55,525,073 55,549,632 24,560
ENST00000417454.5 hg19 chr19 55,525,073 55,549,632 24,560
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