GABRA6 gamma-aminobutyric acid type A receptor subunit alpha6

Information
Symbol
GABRA6
Type
protein-coding
Description
gamma-aminobutyric acid type A receptor subunit alpha6
Entrez Gene ID
2559
Genome
hg19
Position
chr5:161,112,727-161,129,598
Genome
hg38
Position
chr5:161,685,721-161,702,592
MIM
137143 OMIM
HGNC
HGNC:4080 HGNC
Ensembl
ENSG00000145863 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 0
Benign 0 24
Likely benign 0 40
Uncertain significance 0 40
Ranking
ClinVar
0
0
14
86
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
MIM 137143 OMIM
HGNC HGNC:4080 HGNC
Ensembl ENSG00000145863 Ensembl
AllianceGenome HGNC:4080
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000274545.10 hg38 chr5 161,685,721 161,702,592 16,872
ENST00000523217.5 hg38 chr5 161,685,748 161,702,592 16,845
ENST00000274545.10 hg19 chr5 161,112,727 161,129,598 16,872
ENST00000523217.5 hg19 chr5 161,112,754 161,129,598 16,845
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