ANKRD1 ankyrin repeat domain 1

Information
Symbol
ANKRD1
Type
protein-coding
Description
ankyrin repeat domain 1
Entrez Gene ID
27063
Genome
hg19
Position
chr10:92,671,853-92,680,844
Genome
hg38
Position
chr10:90,912,096-90,921,087
MIM
609599 OMIM
HGNC
HGNC:15819 HGNC
Ensembl
ENSG00000148677 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 0
Benign 0 72
Likely benign 0 264
Conflicting classifications of pathogenicity 0 56
Uncertain significance 0 524
Ranking
ClinVar
0
0
252
564
8
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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 ALRP
SYNONYM C-193
SYNONYM CARP
SYNONYM CVARP
SYNONYM MCARP
SYNONYM bA320F15.2
MIM 609599 OMIM
HGNC HGNC:15819 HGNC
Ensembl ENSG00000148677 Ensembl
AllianceGenome HGNC:15819
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000371697.4 hg38 chr10 90,912,096 90,921,087 8,992
ENST00000371697.4 hg19 chr10 92,671,853 92,680,844 8,992
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