GABBR1 gamma-aminobutyric acid type B receptor subunit 1

Information
Symbol
GABBR1
Type
protein-coding
Description
gamma-aminobutyric acid type B receptor subunit 1
Entrez Gene ID
2550
Genome
hg19
Position
chr6:29,570,015-29,600,960
Genome
hg38
Position
chr6:29,602,238-29,633,183
MIM
603540 OMIM
HGNC
HGNC:4070 HGNC
Ensembl
ENSG00000204681 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 10
Benign 0 6
Likely benign 0 28
not provided 33 2
Uncertain significance 0 116
Ranking
ClinVar
0
0
2
158
0
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 GABABR1
SYNONYM GABBR1-3
SYNONYM GB1
SYNONYM GPRC3A
SYNONYM NEDLC
MIM 603540 OMIM
HGNC HGNC:4070 HGNC
Ensembl ENSG00000204681 Ensembl
AllianceGenome HGNC:4070
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000355973.7 hg38 chr6 29,555,629 29,628,038 72,410
ENST00000462632.6 hg38 chr6 29,602,242 29,633,976 31,735
ENST00000377012.9 hg38 chr6 29,602,238 29,628,013 25,776
ENST00000377016.8 hg38 chr6 29,602,230 29,633,135 30,906
ENST00000476670.3 hg38 chr6 29,602,412 29,632,782 30,371
ENST00000706533.1 hg38 chr6 29,602,284 29,632,904 30,621
ENST00000377034.9 hg38 chr6 29,602,238 29,633,183 30,946
ENST00000355973.7 hg19 chr6 29,523,406 29,595,815 72,410
ENST00000377012.9 hg19 chr6 29,570,015 29,595,790 25,776
ENST00000377016.8 hg19 chr6 29,570,007 29,600,912 30,906
ENST00000377034.9 hg19 chr6 29,570,015 29,600,960 30,946
ENST00000462632.6 hg19 chr6 29,570,019 29,601,753 31,735
ENST00000706533.1 hg19 chr6 29,570,061 29,600,681 30,621
ENST00000476670.3 hg19 chr6 29,570,189 29,600,559 30,371
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