C9orf72 C9orf72-SMCR8 complex subunit

Information
Symbol
C9orf72
Type
protein-coding
Description
C9orf72-SMCR8 complex subunit
Entrez Gene ID
203228
Genome
hg19
Position
chr9:27,546,544-27,573,864
Genome
hg38
Position
chr9:27,546,546-27,573,866
MIM
614260 OMIM
HGNC
HGNC:28337 HGNC
Ensembl
ENSG00000147894 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 48
Likely benign 0 18
Uncertain significance 0 124
Ranking
ClinVar
0
0
10
178
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 ALSFTD
SYNONYM DENND9
SYNONYM DENNL72
SYNONYM FTDALS
SYNONYM FTDALS1
MIM 614260 OMIM
HGNC HGNC:28337 HGNC
Ensembl ENSG00000147894 Ensembl
AllianceGenome HGNC:28337
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000647196.1 hg38 chr9 27,556,456 27,573,819 17,364
ENST00000380003.8 hg38 chr9 27,546,546 27,573,481 26,936
ENST00000379995.1 hg38 chr9 27,561,549 27,573,755 12,207
ENST00000379997.7 hg38 chr9 27,560,501 27,573,866 13,366
ENST00000644136.1 hg38 chr9 27,547,108 27,573,457 26,350
ENST00000619707.5 hg38 chr9 27,546,546 27,573,866 27,321
ENST00000380003.8 hg19 chr9 27,546,544 27,573,479 26,936
ENST00000619707.5 hg19 chr9 27,546,544 27,573,864 27,321
ENST00000644136.1 hg19 chr9 27,547,106 27,573,455 26,350
ENST00000647196.1 hg19 chr9 27,556,454 27,573,817 17,364
ENST00000379997.7 hg19 chr9 27,560,499 27,573,864 13,366
ENST00000379995.1 hg19 chr9 27,561,547 27,573,753 12,207
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