ABCE1 ATP binding cassette subfamily E member 1

Information
Symbol
ABCE1
Type
protein-coding
Description
ATP binding cassette subfamily E member 1
Entrez Gene ID
6059
Genome
hg19
Position
chr4:146,019,463-146,050,676
Genome
hg38
Position
chr4:145,098,311-145,129,524
MIM
601213 OMIM
HGNC
HGNC:69 HGNC
Ensembl
ENSG00000164163 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 8
Likely benign 0 2
Uncertain significance 0 14
Ranking
ClinVar
0
0
0
22
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 :
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 ABC38
SYNONYM OABP
SYNONYM RLI
SYNONYM RLI1
SYNONYM RNASEL1
SYNONYM RNASELI
SYNONYM RNS4I
MIM 601213 OMIM
HGNC HGNC:69 HGNC
Ensembl ENSG00000164163 Ensembl
AllianceGenome HGNC:69
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000296577.9 hg38 chr4 145,098,311 145,129,524 31,214
ENST00000296577.9 hg19 chr4 146,019,463 146,050,676 31,214
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