ATP6V1B1 ATPase H+ transporting V1 subunit B1

Information
Symbol
ATP6V1B1
Type
protein-coding
Description
ATPase H+ transporting V1 subunit B1
Entrez Gene ID
525
Genome
hg19
Position
chr2:71,163,030-71,192,561
Genome
hg38
Position
chr2:70,935,900-70,965,431
MIM
192132 OMIM
HGNC
HGNC:853 HGNC
Ensembl
ENSG00000116039 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 8 134
Likely pathogenic 0 70
Benign 0 94
Likely benign 0 742
Conflicting classifications of pathogenicity 0 52
Uncertain significance 0 262
Ranking
ClinVar
0
0
226
1,034
16
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 ATP6B1
SYNONYM DRTA2
SYNONYM RTA1B
SYNONYM VATB
SYNONYM VMA2
SYNONYM VPP3
MIM 192132 OMIM
HGNC HGNC:853 HGNC
Ensembl ENSG00000116039 Ensembl
AllianceGenome HGNC:853
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000234396.10 hg38 chr2 70,935,900 70,965,431 29,532
ENST00000412314.5 hg38 chr2 70,935,921 70,965,401 29,481
ENST00000234396.10 hg19 chr2 71,163,030 71,192,561 29,532
ENST00000412314.5 hg19 chr2 71,163,051 71,192,531 29,481
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