VAC14 VAC14 component of PIKFYVE complex

Information
Symbol
VAC14
Type
protein-coding
Description
VAC14 component of PIKFYVE complex
Entrez Gene ID
55697
Genome
hg19
Position
chr16:70,721,342-70,835,061
Genome
hg38
Position
chr16:70,687,439-70,801,158
MIM
604632 OMIM
HGNC
HGNC:25507 HGNC
Ensembl
ENSG00000103043 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 14
Likely pathogenic 0 10
Benign 0 116
Likely benign 0 418
Conflicting classifications of pathogenicity 0 14
Uncertain significance 0 228
Ranking
ClinVar
0
0
90
676
12
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
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 ArPIKfyve
SYNONYM TAX1BP2
SYNONYM TRX
MIM 604632 OMIM
HGNC HGNC:25507 HGNC
Ensembl ENSG00000103043 Ensembl
AllianceGenome HGNC:25507
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000261776.10 hg38 chr16 70,687,439 70,801,158 113,720
ENST00000536184.6 hg38 chr16 70,687,442 70,700,245 12,804
ENST00000261776.10 hg19 chr16 70,721,342 70,835,061 113,720
ENST00000536184.6 hg19 chr16 70,721,345 70,734,148 12,804
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