SMCR8 SMCR8-C9orf72 complex subunit

Information
Symbol
SMCR8
Type
protein-coding
Description
SMCR8-C9orf72 complex subunit
Entrez Gene ID
140775
Genome
hg19
Position
chr17:18,218,607-18,231,370
Genome
hg38
Position
chr17:18,315,293-18,328,056
MIM
617074 OMIM
HGNC
HGNC:17921 HGNC
Ensembl
ENSG00000176994 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 6
not provided 2 0
Uncertain significance 0 118
Ranking
ClinVar
0
0
0
126
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
SYNONYM DENND8A
MIM 617074 OMIM
HGNC HGNC:17921 HGNC
Ensembl ENSG00000176994 Ensembl
AllianceGenome HGNC:17921
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000406438.5 hg38 chr17 18,315,293 18,328,056 12,764
ENST00000406438.5 hg19 chr17 18,218,607 18,231,370 12,764
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