C12orf50 chromosome 12 open reading frame 50

Information
Symbol
C12orf50
Type
protein-coding
Description
chromosome 12 open reading frame 50
Entrez Gene ID
160419
Genome
hg19
Position
chr12:88,373,812-88,423,178
Genome
hg38
Position
chr12:87,980,035-88,029,401
HGNC
HGNC:26665 HGNC
Ensembl
ENSG00000165805 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
not provided 1 0
Uncertain significance 0 8
Ranking
ClinVar
0
0
0
8
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:26665 HGNC
Ensembl ENSG00000165805 Ensembl
AllianceGenome HGNC:26665
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000298699.7 hg38 chr12 87,980,035 88,029,401 49,367
ENST00000550553.5 hg38 chr12 87,980,122 88,029,419 49,298
ENST00000298699.7 hg19 chr12 88,373,812 88,423,178 49,367
ENST00000550553.5 hg19 chr12 88,373,899 88,423,196 49,298
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