GABRQ gamma-aminobutyric acid type A receptor subunit theta

Information
Symbol
GABRQ
Type
protein-coding
Description
gamma-aminobutyric acid type A receptor subunit theta
Entrez Gene ID
55879
Genome
hg19
Position
chrX:151,806,349-151,826,007
Genome
hg38
Position
chrX:152,637,895-152,657,542
MIM
300349 OMIM
HGNC
HGNC:14454 HGNC
Ensembl
ENSG00000268089 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 1
Likely benign 0 10
not provided 6 0
Uncertain significance 0 32
Ranking
ClinVar
0
0
0
41
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 THETA
MIM 300349 OMIM
HGNC HGNC:14454 HGNC
Ensembl ENSG00000268089 Ensembl
AllianceGenome HGNC:14454
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000598523.3 hg38 chrX 152,637,895 152,657,542 19,648
ENST00000598523.3 hg19 chrX 151,806,349 151,826,007 19,659
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