C19orf12 chromosome 19 open reading frame 12

Information
Symbol
C19orf12
Type
protein-coding
Description
chromosome 19 open reading frame 12
Entrez Gene ID
83636
Genome
hg19
Position
chr19:30,189,844-30,206,168
Genome
hg38
Position
chr19:29,698,937-29,715,261
MIM
614297 OMIM
HGNC
HGNC:25443 HGNC
Ensembl
ENSG00000131943 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 34
Likely pathogenic 0 32
Benign 0 94
Likely benign 0 132
Conflicting classifications of pathogenicity 0 22
not provided 1 0
Uncertain significance 0 302
Ranking
ClinVar
0
0
72
484
12
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 MPAN
SYNONYM NBIA3
SYNONYM NBIA4
SYNONYM SPG43
MIM 614297 OMIM
HGNC HGNC:25443 HGNC
Ensembl ENSG00000131943 Ensembl
AllianceGenome HGNC:25443
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000392276.1 hg38 chr19 29,701,163 29,715,221 14,059
ENST00000392275.1 hg38 chr19 29,702,341 29,715,457 13,117
ENST00000623113.3 hg38 chr19 29,699,576 29,715,060 15,485
ENST00000592153.5 hg38 chr19 29,701,689 29,715,224 13,536
ENST00000323670.14 hg38 chr19 29,698,937 29,715,261 16,325
ENST00000323670.14 hg19 chr19 30,189,844 30,206,168 16,325
ENST00000623113.3 hg19 chr19 30,190,483 30,205,967 15,485
ENST00000392276.1 hg19 chr19 30,192,070 30,206,128 14,059
ENST00000592153.5 hg19 chr19 30,192,596 30,206,131 13,536
ENST00000392275.1 hg19 chr19 30,193,248 30,206,364 13,117
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