AMBRA1 autophagy and beclin 1 regulator 1

Information
Symbol
AMBRA1
Type
protein-coding
Description
autophagy and beclin 1 regulator 1
Entrez Gene ID
55626
Genome
hg19
Position
chr11:46,417,965-46,612,973
Genome
hg38
Position
chr11:46,396,415-46,591,423
MIM
611359 OMIM
HGNC
HGNC:25990 HGNC
Ensembl
ENSG00000110497 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 6
Likely benign 0 8
Uncertain significance 0 130
Ranking
ClinVar
0
0
0
132
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 :
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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 DCAF3
SYNONYM WDR94
MIM 611359 OMIM
HGNC HGNC:25990 HGNC
Ensembl ENSG00000110497 Ensembl
AllianceGenome HGNC:25990
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000314845.7 hg38 chr11 46,396,414 46,591,364 194,951
ENST00000683756.1 hg38 chr11 46,396,414 46,594,023 197,610
ENST00000458649.6 hg38 chr11 46,396,415 46,591,423 195,009
ENST00000528950.1 hg38 chr11 46,397,450 46,594,045 196,596
ENST00000534300.5 hg38 chr11 46,396,414 46,594,021 197,608
ENST00000533727.5 hg38 chr11 46,396,414 46,593,948 197,535
ENST00000314845.7 hg19 chr11 46,417,964 46,612,914 194,951
ENST00000533727.5 hg19 chr11 46,417,964 46,615,498 197,535
ENST00000534300.5 hg19 chr11 46,417,964 46,615,571 197,608
ENST00000683756.1 hg19 chr11 46,417,964 46,615,573 197,610
ENST00000458649.6 hg19 chr11 46,417,965 46,612,973 195,009
ENST00000528950.1 hg19 chr11 46,419,000 46,615,595 196,596
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