GARIN5A golgi associated RAB2 interactor 5A

Information
Symbol
GARIN5A
Type
protein-coding
Description
golgi associated RAB2 interactor 5A
Entrez Gene ID
112703
Genome
hg19
Position
chr19:50,970,045-50,980,105
Genome
hg38
Position
chr19:50,466,788-50,476,848
MIM
619890 OMIM
HGNC
HGNC:25107 HGNC
Ensembl
ENSG00000142530 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Likely pathogenic 0 2
Likely benign 0 8
Uncertain significance 0 38
Ranking
ClinVar
0
0
2
46
2
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 :
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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 FAM71E1
SYNONYM GARIL5
MIM 619890 OMIM
HGNC HGNC:25107 HGNC
Ensembl ENSG00000142530 Ensembl
AllianceGenome HGNC:25107
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000600100.6 hg38 chr19 50,466,788 50,476,848 10,061
ENST00000595790.5 hg38 chr19 50,466,788 50,476,746 9,959
ENST00000595790.5 hg19 chr19 50,970,045 50,980,003 9,959
ENST00000600100.6 hg19 chr19 50,970,045 50,980,105 10,061
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