ATP13A1 ATPase 13A1

Information
Symbol
ATP13A1
Type
protein-coding
Description
ATPase 13A1
Entrez Gene ID
57130
Genome
hg19
Position
chr19:19,756,007-19,774,485
Genome
hg38
Position
chr19:19,645,198-19,663,676
MIM
619118 OMIM
HGNC
HGNC:24215 HGNC
Ensembl
ENSG00000105726 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 16
Likely benign 0 22
Uncertain significance 0 156
Ranking
ClinVar
0
0
2
192
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
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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 :
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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 ATP13A
SYNONYM CGI-152
MIM 619118 OMIM
HGNC HGNC:24215 HGNC
Ensembl ENSG00000105726 Ensembl
AllianceGenome HGNC:24215
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000291503.9 hg38 chr19 19,645,200 19,662,116 16,917
ENST00000357324.11 hg38 chr19 19,645,198 19,663,676 18,479
ENST00000357324.11 hg19 chr19 19,756,007 19,774,485 18,479
ENST00000291503.9 hg19 chr19 19,756,009 19,772,925 16,917
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