GET3 guided entry of tail-anchored proteins factor 3, ATPase

Information
Symbol
GET3
Type
protein-coding
Description
guided entry of tail-anchored proteins factor 3, ATPase
Entrez Gene ID
439
Genome
hg19
Position
chr19:12,847,953-12,859,137
Genome
hg38
Position
chr19:12,737,139-12,748,323
MIM
601913 OMIM
HGNC
HGNC:752 HGNC
Ensembl
ENSG00000198356 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
no classification for the single variant 0 4
Uncertain significance 0 26
Ranking
ClinVar
0
0
0
24
4
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 ARSA-I
SYNONYM ARSA1
SYNONYM ASNA-I
SYNONYM ASNA1
SYNONYM CMD2H
SYNONYM TRC40
MIM 601913 OMIM
HGNC HGNC:752 HGNC
Ensembl ENSG00000198356 Ensembl
AllianceGenome HGNC:752
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000357332.8 hg38 chr19 12,737,497 12,748,323 10,827
ENST00000591090.5 hg38 chr19 12,737,139 12,748,323 11,185
ENST00000591090.5 hg19 chr19 12,847,953 12,859,137 11,185
ENST00000357332.8 hg19 chr19 12,848,311 12,859,137 10,827
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