C9orf43 chromosome 9 open reading frame 43

Information
Symbol
C9orf43
Type
protein-coding
Description
chromosome 9 open reading frame 43
Entrez Gene ID
257169
Genome
hg19
Position
chr9:116,173,022-116,191,964
Genome
hg38
Position
chr9:113,410,742-113,429,684
HGNC
HGNC:23570 HGNC
Ensembl
ENSG00000157653 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 1 0
Likely benign 0 2
Uncertain significance 0 4
Ranking
ClinVar
0
0
0
6
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
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
HGNC HGNC:23570 HGNC
Ensembl ENSG00000157653 Ensembl
AllianceGenome HGNC:23570
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000288462.4 hg38 chr9 113,410,742 113,429,684 18,943
ENST00000374165.6 hg38 chr9 113,410,747 113,429,690 18,944
ENST00000288462.4 hg19 chr9 116,173,022 116,191,964 18,943
ENST00000374165.6 hg19 chr9 116,173,027 116,191,970 18,944
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