ATP1A3 ATPase Na+/K+ transporting subunit alpha 3

Information
Symbol
ATP1A3
Type
protein-coding
Description
ATPase Na+/K+ transporting subunit alpha 3
Entrez Gene ID
478
Genome
hg19
Position
chr19:42,470,736-42,498,422
Genome
hg38
Position
chr19:41,966,584-41,994,270
MIM
182350 OMIM
HGNC
HGNC:801 HGNC
Ensembl
ENSG00000105409 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 36 168
Likely pathogenic 1 158
Benign 0 154
Likely benign 0 996
Conflicting classifications of pathogenicity 0 88
not provided 1 6
Uncertain significance 0 756
Ranking
ClinVar
0
0
392
1,702
32
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 :
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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
SYNONYM AHC2
SYNONYM ATP1A1
SYNONYM CAPOS
SYNONYM DEE99
SYNONYM DYT12
SYNONYM RDP
MIM 182350 OMIM
HGNC HGNC:801 HGNC
Ensembl ENSG00000105409 Ensembl
AllianceGenome HGNC:801
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000602133.5 hg38 chr19 41,966,584 41,994,079 27,496
ENST00000545399.6 hg38 chr19 41,966,584 41,994,270 27,687
ENST00000648268.1 hg38 chr19 41,966,582 41,994,230 27,649
ENST00000543770.5 hg38 chr19 41,966,621 41,993,467 26,847
ENST00000648268.1 hg19 chr19 42,470,734 42,498,382 27,649
ENST00000602133.5 hg19 chr19 42,470,736 42,498,231 27,496
ENST00000545399.6 hg19 chr19 42,470,736 42,498,422 27,687
ENST00000543770.5 hg19 chr19 42,470,773 42,497,619 26,847
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