GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5

Information
Symbol
GABRA5
Type
protein-coding
Description
gamma-aminobutyric acid type A receptor subunit alpha5
Entrez Gene ID
2558
Genome
hg19
Position
chr15:27,112,209-27,194,355
Genome
hg38
Position
chr15:26,867,062-26,949,208
MIM
137142 OMIM
HGNC
HGNC:4079 HGNC
Ensembl
ENSG00000186297 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 10
Likely pathogenic 0 4
Benign 0 26
Likely benign 0 40
not provided 2 0
Uncertain significance 0 70
Ranking
ClinVar
0
0
22
112
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 DEE79
SYNONYM EIEE79
MIM 137142 OMIM
HGNC HGNC:4079 HGNC
Ensembl ENSG00000186297 Ensembl
AllianceGenome HGNC:4079
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000400081.7 hg38 chr15 26,867,126 26,949,207 82,082
ENST00000355395.9 hg38 chr15 26,866,911 26,948,752 81,842
ENST00000335625.10 hg38 chr15 26,867,062 26,949,208 82,147
ENST00000355395.9 hg19 chr15 27,112,058 27,193,899 81,842
ENST00000335625.10 hg19 chr15 27,112,209 27,194,355 82,147
ENST00000400081.7 hg19 chr15 27,112,273 27,194,354 82,082
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