GP1BA glycoprotein Ib platelet subunit alpha

Information
Symbol
GP1BA
Type
protein-coding
Description
glycoprotein Ib platelet subunit alpha
Entrez Gene ID
2811
Genome
hg19
Position
chr17:4,835,572-4,838,318
Genome
hg38
Position
chr17:4,932,277-4,935,023
MIM
606672 OMIM
HGNC
HGNC:4439 HGNC
Ensembl
ENSG00000185245 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 50
Likely pathogenic 0 48
Benign 10 28
Likely benign 0 80
Conflicting classifications of pathogenicity 0 8
not provided 0 2
Uncertain significance 0 158
Ranking
ClinVar
0
0
74
232
34
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 BDPLT1
SYNONYM BDPLT3
SYNONYM BSS
SYNONYM CD42B
SYNONYM CD42b-alpha
SYNONYM DBPLT3
SYNONYM GP1B
SYNONYM GPIbA
SYNONYM GPIbalpha
SYNONYM VWDP
MIM 606672 OMIM
HGNC HGNC:4439 HGNC
Ensembl ENSG00000185245 Ensembl
AllianceGenome HGNC:4439
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000329125.6 hg38 chr17 4,932,277 4,935,023 2,747
ENST00000329125.6 hg19 chr17 4,835,572 4,838,318 2,747
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