ARL14EP ADP ribosylation factor like GTPase 14 effector protein

Information
Symbol
ARL14EP
Type
protein-coding
Description
ADP ribosylation factor like GTPase 14 effector protein
Entrez Gene ID
120534
Genome
hg19
Position
chr11:30,344,651-30,359,770
Genome
hg38
Position
chr11:30,323,104-30,338,223
MIM
612295 OMIM
HGNC
HGNC:26798 HGNC
Ensembl
ENSG00000152219 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 2
Benign 0 4
Likely benign 0 4
Uncertain significance 0 12
Ranking
ClinVar
0
0
0
22
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
Category :
Search word :
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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 :
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 ARF7EP
SYNONYM C11orf46
SYNONYM dJ299F11.1
MIM 612295 OMIM
HGNC HGNC:26798 HGNC
Ensembl ENSG00000152219 Ensembl
AllianceGenome HGNC:26798
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000282032.4 hg38 chr11 30,323,104 30,338,223 15,120
ENST00000282032.4 hg19 chr11 30,344,651 30,359,770 15,120
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