AHNAK AHNAK nucleoprotein

Information
Symbol
AHNAK
Type
protein-coding
Description
AHNAK nucleoprotein
Entrez Gene ID
79026
Genome
hg19
Position
chr11:62,283,374-62,314,278
Genome
hg38
Position
chr11:62,515,902-62,546,806
MIM
103390 OMIM
HGNC
HGNC:347 HGNC
Ensembl
ENSG00000124942 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 112
Likely benign 0 168
Conflicting classifications of pathogenicity 0 8
Uncertain significance 0 732
Ranking
ClinVar
0
0
14
984
6
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 AHNAK1
SYNONYM AHNAKRS
SYNONYM PM227
MIM 103390 OMIM
HGNC HGNC:347 HGNC
Ensembl ENSG00000124942 Ensembl
AllianceGenome HGNC:347
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000378024.9 hg38 chr11 62,515,902 62,546,806 30,905
ENST00000530124.5 hg38 chr11 62,433,542 62,536,107 102,566
ENST00000257247.11 hg38 chr11 62,433,546 62,546,796 113,251
ENST00000530124.5 hg19 chr11 62,201,014 62,303,579 102,566
ENST00000257247.11 hg19 chr11 62,201,018 62,314,268 113,251
ENST00000378024.9 hg19 chr11 62,283,374 62,314,278 30,905
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