GNAQ G protein subunit alpha q

Information
Symbol
GNAQ
Type
protein-coding
Description
G protein subunit alpha q
Entrez Gene ID
2776
Genome
hg19
Position
chr9:80,331,013-80,646,727
Genome
hg38
Position
chr9:77,716,097-78,031,811
MIM
600998 OMIM
HGNC
HGNC:4390 HGNC
Ensembl
ENSG00000156052 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 18
Likely pathogenic 0 8
Benign 0 22
Likely benign 0 30
not provided 38 0
other 1 0
Uncertain significance 0 16
Ranking
ClinVar
0
0
12
70
6
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 CMAL
SYNONYM CMC1
SYNONYM G-ALPHA-q
SYNONYM GAQ
SYNONYM SWS
MIM 600998 OMIM
HGNC HGNC:4390 HGNC
Ensembl ENSG00000156052 Ensembl
AllianceGenome HGNC:4390
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000286548.9 hg38 chr9 77,716,097 78,031,811 315,715
ENST00000286548.9 hg19 chr9 80,331,013 80,646,727 315,715
KeyValue
strand-
start80,331,189
VogelsteinOG
Gene SymbolGNAQ
Entrez GeneId2,776
Chr Band9q21
end80,646,364
chrchr9
Nameguanine nucleotide binding protein (G protein), q polypeptide
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