ANKRD54 ankyrin repeat domain 54

Information
Symbol
ANKRD54
Type
protein-coding
Description
ankyrin repeat domain 54
Entrez Gene ID
129138
Genome
hg19
Position
chr22:38,226,862-38,240,341
Genome
hg38
Position
chr22:37,830,855-37,844,334
MIM
613383 OMIM
HGNC
HGNC:25185 HGNC
Ensembl
ENSG00000100124 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Uncertain significance 0 36
Ranking
ClinVar
0
0
0
38
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
SYNONYM LIAR
MIM 613383 OMIM
HGNC HGNC:25185 HGNC
Ensembl ENSG00000100124 Ensembl
AllianceGenome HGNC:25185
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000411961.6 hg38 chr22 37,831,935 37,844,321 12,387
ENST00000215941.9 hg38 chr22 37,830,855 37,844,334 13,480
ENST00000609454.5 hg38 chr22 37,831,860 37,849,327 17,468
ENST00000406423.5 hg38 chr22 37,831,825 37,843,882 12,058
ENST00000215941.9 hg19 chr22 38,226,862 38,240,341 13,480
ENST00000406423.5 hg19 chr22 38,227,832 38,239,889 12,058
ENST00000609454.5 hg19 chr22 38,227,867 38,245,334 17,468
ENST00000411961.6 hg19 chr22 38,227,942 38,240,328 12,387
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