C12orf43 chromosome 12 open reading frame 43

Information
Symbol
C12orf43
Type
protein-coding
Description
chromosome 12 open reading frame 43
Entrez Gene ID
64897
Genome
hg19
Position
chr12:121,441,596-121,454,305
Genome
hg38
Position
chr12:121,003,793-121,016,502
HGNC
HGNC:25719 HGNC
Ensembl
ENSG00000157895 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Likely pathogenic 0 10
Benign 2 38
Likely benign 0 22
Conflicting classifications of pathogenicity 0 30
not provided 2 0
Uncertain risk allele 0 2
Uncertain significance 0 48
Ranking
ClinVar
0
42
22
48
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 Custos
HGNC HGNC:25719 HGNC
Ensembl ENSG00000157895 Ensembl
AllianceGenome HGNC:25719
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000539736.5 hg38 chr12 121,003,892 121,016,487 12,596
ENST00000288757.7 hg38 chr12 121,000,486 121,016,487 16,002
ENST00000445832.7 hg38 chr12 121,002,422 121,012,448 10,027
ENST00000537817.5 hg38 chr12 121,003,793 121,016,502 12,710
ENST00000288757.7 hg19 chr12 121,438,289 121,454,290 16,002
ENST00000445832.7 hg19 chr12 121,440,225 121,450,251 10,027
ENST00000537817.5 hg19 chr12 121,441,596 121,454,305 12,710
ENST00000539736.5 hg19 chr12 121,441,695 121,454,290 12,596
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