GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1

Information
Symbol
GABRA1
Type
protein-coding
Description
gamma-aminobutyric acid type A receptor subunit alpha1
Entrez Gene ID
2554
Genome
hg19
Position
chr5:161,274,685-161,326,987
Genome
hg38
Position
chr5:161,847,679-161,899,981
MIM
137160 OMIM
HGNC
HGNC:4075 HGNC
Ensembl
ENSG00000022355 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 10 60
Likely pathogenic 0 68
Benign 0 112
Likely benign 0 406
Conflicting classifications of pathogenicity 0 134
not provided 1 0
risk factor 0 6
Uncertain significance 0 536
Ranking
ClinVar
0
0
148
988
18
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 DEE19
SYNONYM ECA4
SYNONYM EIEE19
SYNONYM EJM
SYNONYM EJM5
MIM 137160 OMIM
HGNC HGNC:4075 HGNC
Ensembl ENSG00000022355 Ensembl
AllianceGenome HGNC:4075
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000636573.1 hg38 chr5 161,848,625 161,898,178 49,554
ENST00000023897.10 hg38 chr5 161,847,191 161,897,666 50,476
ENST00000637827.1 hg38 chr5 161,850,082 161,897,662 47,581
ENST00000638159.1 hg38 chr5 161,848,942 161,899,941 51,000
ENST00000635880.1 hg38 chr5 161,850,597 161,897,691 47,095
ENST00000437025.6 hg38 chr5 161,848,444 161,899,954 51,511
ENST00000393943.10 hg38 chr5 161,848,120 161,899,971 51,852
ENST00000638112.1 hg38 chr5 161,847,063 161,898,218 51,156
ENST00000428797.7 hg38 chr5 161,847,679 161,899,981 52,303
ENST00000023897.10 hg19 chr5 161,274,197 161,324,672 50,476
ENST00000638112.1 hg19 chr5 161,274,069 161,325,224 51,156
ENST00000428797.7 hg19 chr5 161,274,685 161,326,987 52,303
ENST00000393943.10 hg19 chr5 161,275,126 161,326,977 51,852
ENST00000437025.6 hg19 chr5 161,275,450 161,326,960 51,511
ENST00000635880.1 hg19 chr5 161,277,603 161,324,697 47,095
ENST00000636573.1 hg19 chr5 161,275,631 161,325,184 49,554
ENST00000637827.1 hg19 chr5 161,277,088 161,324,668 47,581
ENST00000638159.1 hg19 chr5 161,275,948 161,326,947 51,000
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