C12orf57 chromosome 12 open reading frame 57

Information
Symbol
C12orf57
Type
protein-coding
Description
chromosome 12 open reading frame 57
Entrez Gene ID
113246
Genome
hg19
Position
chr12:7,053,185-7,055,165
Genome
hg38
Position
chr12:6,944,022-6,946,002
MIM
615140 OMIM
HGNC
HGNC:29521 HGNC
Ensembl
ENSG00000111678 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 36
Likely pathogenic 0 22
Benign 0 32
Likely benign 0 206
Conflicting classifications of pathogenicity 0 10
Uncertain significance 0 194
Ranking
ClinVar
0
0
56
412
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 C10
SYNONYM GRCC10
MIM 615140 OMIM
HGNC HGNC:29521 HGNC
Ensembl ENSG00000111678 Ensembl
AllianceGenome HGNC:29521
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000540506.2 hg38 chr12 6,944,122 6,945,996 1,875
ENST00000544681.1 hg38 chr12 6,943,817 6,945,098 1,282
ENST00000229281.6 hg38 chr12 6,944,022 6,946,002 1,981
ENST00000537087.5 hg38 chr12 6,943,834 6,946,002 2,169
ENST00000544681.1 hg19 chr12 7,052,980 7,054,261 1,282
ENST00000537087.5 hg19 chr12 7,052,997 7,055,165 2,169
ENST00000229281.6 hg19 chr12 7,053,185 7,055,165 1,981
ENST00000540506.2 hg19 chr12 7,053,285 7,055,159 1,875
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