ANKRD53 ankyrin repeat domain 53

Information
Symbol
ANKRD53
Type
protein-coding
Description
ankyrin repeat domain 53
Entrez Gene ID
79998
Genome
hg19
Position
chr2:71,205,760-71,212,629
Genome
hg38
Position
chr2:70,978,630-70,985,499
MIM
617009 OMIM
HGNC
HGNC:25691 HGNC
Ensembl
ENSG00000144031 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 14
Uncertain significance 0 90
Ranking
ClinVar
0
0
0
104
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 :
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
MIM 617009 OMIM
HGNC HGNC:25691 HGNC
Ensembl ENSG00000144031 Ensembl
AllianceGenome HGNC:25691
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000272421.10 hg38 chr2 70,978,380 70,985,499 7,120
ENST00000457410.5 hg38 chr2 70,978,507 70,985,341 6,835
ENST00000441349.5 hg38 chr2 70,978,452 70,985,450 6,999
ENST00000360589.4 hg38 chr2 70,978,630 70,985,499 6,870
ENST00000272421.10 hg19 chr2 71,205,510 71,212,629 7,120
ENST00000441349.5 hg19 chr2 71,205,582 71,212,580 6,999
ENST00000457410.5 hg19 chr2 71,205,637 71,212,471 6,835
ENST00000360589.4 hg19 chr2 71,205,760 71,212,629 6,870
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