GABRE gamma-aminobutyric acid type A receptor subunit epsilon

Information
Symbol
GABRE
Type
protein-coding
Description
gamma-aminobutyric acid type A receptor subunit epsilon
Entrez Gene ID
2564
Genome
hg19
Position
chrX:151,121,596-151,143,148
Genome
hg38
Position
chrX:151,953,124-151,974,676
MIM
300093 OMIM
HGNC
HGNC:4085 HGNC
Ensembl
ENSG00000102287 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Benign 0 10
Likely benign 0 22
not provided 6 0
Uncertain significance 0 66
Ranking
ClinVar
0
0
4
88
8
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 300093 OMIM
HGNC HGNC:4085 HGNC
Ensembl ENSG00000102287 Ensembl
AllianceGenome HGNC:4085
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000370328.4 hg38 chrX 151,953,124 151,974,676 21,553
ENST00000370328.4 hg19 chrX 151,121,596 151,143,148 21,553
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