ATP6AP1 ATPase H+ transporting accessory protein 1

Information
Symbol
ATP6AP1
Type
protein-coding
Description
ATPase H+ transporting accessory protein 1
Entrez Gene ID
537
Genome
hg19
Position
chrX:153,657,023-153,664,862
Genome
hg38
Position
chrX:154,428,677-154,436,516
MIM
300197 OMIM
HGNC
HGNC:868 HGNC
Ensembl
ENSG00000071553 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 14
Likely pathogenic 0 10
Benign 0 75
Likely benign 0 170
Conflicting classifications of pathogenicity 0 20
not provided 6 0
Uncertain significance 0 180
Ranking
ClinVar
0
0
23
412
8
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 16A
SYNONYM ATP6IP1
SYNONYM ATP6S1
SYNONYM Ac45
SYNONYM CF2
SYNONYM VATPS1
SYNONYM XAP-3
SYNONYM XAP3
MIM 300197 OMIM
HGNC HGNC:868 HGNC
Ensembl ENSG00000071553 Ensembl
AllianceGenome HGNC:868
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000369762.7 hg38 chrX 154,428,677 154,436,516 7,840
ENST00000369762.7 hg19 chrX 153,657,023 153,664,862 7,840
Genome browser