GGA1 golgi associated, gamma adaptin ear containing, ARF binding protein 1

Information
Symbol
GGA1
Type
protein-coding
Description
golgi associated, gamma adaptin ear containing, ARF binding protein 1
Entrez Gene ID
26088
Genome
hg19
Position
chr22:38,004,732-38,028,718
Genome
hg38
Position
chr22:37,608,725-37,632,711
MIM
606004 OMIM
HGNC
HGNC:17842 HGNC
Ensembl
ENSG00000100083 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 6
Likely benign 0 8
Uncertain significance 0 74
Ranking
ClinVar
0
0
0
88
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
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
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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 606004 OMIM
HGNC HGNC:17842 HGNC
Ensembl ENSG00000100083 Ensembl
AllianceGenome HGNC:17842
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000405147.7 hg38 chr22 37,608,834 37,620,044 11,211
ENST00000343632.9 hg38 chr22 37,608,834 37,633,564 24,731
ENST00000325180.12 hg38 chr22 37,608,845 37,633,564 24,720
ENST00000406772.5 hg38 chr22 37,609,040 37,633,563 24,524
ENST00000381756.9 hg38 chr22 37,608,725 37,632,711 23,987
ENST00000715689.1 hg38 chr22 37,608,474 37,633,564 25,091
ENST00000381756.9 hg19 chr22 38,004,732 38,028,718 23,987
ENST00000406772.5 hg19 chr22 38,005,047 38,029,570 24,524
ENST00000405147.7 hg19 chr22 38,004,841 38,016,051 11,211
ENST00000343632.9 hg19 chr22 38,004,841 38,029,571 24,731
ENST00000715689.1 hg19 chr22 38,004,481 38,029,571 25,091
ENST00000325180.12 hg19 chr22 38,004,852 38,029,571 24,720
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