GNAT1 G protein subunit alpha transducin 1

Information
Symbol
GNAT1
Type
protein-coding
Description
G protein subunit alpha transducin 1
Entrez Gene ID
2779
Genome
hg19
Position
chr3:50,229,043-50,235,129
Genome
hg38
Position
chr3:50,191,610-50,197,696
MIM
139330 OMIM
HGNC
HGNC:4393 HGNC
Ensembl
ENSG00000114349 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 30
Likely pathogenic 0 10
Benign 2 54
Likely benign 0 234
Conflicting classifications of pathogenicity 0 14
Uncertain significance 0 324
Ranking
ClinVar
0
0
44
580
10
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 CSNB1G
SYNONYM CSNBAD3
SYNONYM GBT1
SYNONYM GNATR
SYNONYM HG1F
MIM 139330 OMIM
HGNC HGNC:4393 HGNC
Ensembl ENSG00000114349 Ensembl
AllianceGenome HGNC:4393
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000433068.5 hg38 chr3 50,191,670 50,196,515 4,846
ENST00000232461.8 hg38 chr3 50,191,610 50,197,696 6,087
ENST00000232461.8 hg19 chr3 50,229,043 50,235,129 6,087
ENST00000433068.5 hg19 chr3 50,229,103 50,233,948 4,846
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