VMA21 vacuolar ATPase assembly factor VMA21

Information
Symbol
VMA21
Type
protein-coding
Description
vacuolar ATPase assembly factor VMA21
Entrez Gene ID
203547
Genome
hg19
Position
chrX:150,565,038-150,573,629
Genome
hg38
Position
chrX:151,396,566-151,405,157
MIM
300913 OMIM
HGNC
HGNC:22082 HGNC
Ensembl
ENSG00000160131 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 16
Benign 0 34
Likely benign 0 42
Conflicting classifications of pathogenicity 0 6
not provided 6 0
Uncertain significance 0 70
Ranking
ClinVar
0
0
16
134
10
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 MEAX
SYNONYM XMEA
MIM 300913 OMIM
HGNC HGNC:22082 HGNC
Ensembl ENSG00000160131 Ensembl
AllianceGenome HGNC:22082
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000370361.5 hg38 chrX 151,396,566 151,405,157 8,592
ENST00000330374.7 hg38 chrX 151,397,206 151,409,364 12,159
ENST00000370361.5 hg19 chrX 150,565,038 150,573,629 8,592
ENST00000330374.7 hg19 chrX 150,565,678 150,577,836 12,159
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