ATP12A ATPase H+/K+ transporting non-gastric alpha2 subunit

Information
Symbol
ATP12A
Type
protein-coding
Description
ATPase H+/K+ transporting non-gastric alpha2 subunit
Entrez Gene ID
479
Genome
hg19
Position
chr13:25,254,549-25,285,921
Genome
hg38
Position
chr13:24,680,411-24,711,783
MIM
182360 OMIM
HGNC
HGNC:13816 HGNC
Ensembl
ENSG00000075673 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Likely benign 0 8
Uncertain significance 0 112
Ranking
ClinVar
0
0
2
118
2
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
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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 :
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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 :
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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 ATP1AL1
SYNONYM H-K-ATPase
SYNONYM HK
MIM 182360 OMIM
HGNC HGNC:13816 HGNC
Ensembl ENSG00000075673 Ensembl
AllianceGenome HGNC:13816
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000381946.5 hg38 chr13 24,680,408 24,712,472 32,065
ENST00000218548.10 hg38 chr13 24,680,411 24,711,783 31,373
ENST00000381946.5 hg19 chr13 25,254,546 25,286,610 32,065
ENST00000218548.10 hg19 chr13 25,254,549 25,285,921 31,373
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