GATA4 GATA binding protein 4

Information
Symbol
GATA4
Type
protein-coding
Description
GATA binding protein 4
Entrez Gene ID
2626
Genome
hg19
Position
chr8:11,561,711-11,617,511
Genome
hg38
Position
chr8:11,704,202-11,760,002
MIM
600576 OMIM
HGNC
HGNC:4173 HGNC
Ensembl
ENSG00000136574 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 8 54
Likely pathogenic 2 12
Benign 0 150
Likely benign 0 590
Conflicting classifications of pathogenicity 0 30
not provided 2 0
Uncertain significance 0 748
Ranking
ClinVar
0
0
352
1,120
36
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 ASD2
SYNONYM TACHD
SYNONYM TOF
SYNONYM VSD1
MIM 600576 OMIM
HGNC HGNC:4173 HGNC
Ensembl ENSG00000136574 Ensembl
AllianceGenome HGNC:4173
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000528712.5 hg38 chr8 11,676,959 11,760,000 83,042
ENST00000532059.6 hg38 chr8 11,704,202 11,760,002 55,801
ENST00000335135.8 hg38 chr8 11,704,204 11,760,002 55,799
ENST00000622443.3 hg38 chr8 11,704,222 11,759,994 55,773
ENST00000528712.5 hg19 chr8 11,534,468 11,617,509 83,042
ENST00000532059.6 hg19 chr8 11,561,711 11,617,511 55,801
ENST00000335135.8 hg19 chr8 11,561,713 11,617,511 55,799
ENST00000622443.3 hg19 chr8 11,561,731 11,617,503 55,773
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