CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10

Information
Symbol
CHCHD10
Type
protein-coding
Description
coiled-coil-helix-coiled-coil-helix domain containing 10
Entrez Gene ID
400916
Genome
hg19
Position
chr22:24,108,021-24,110,129
Genome
hg38
Position
chr22:23,765,834-23,767,942
MIM
615903 OMIM
HGNC
HGNC:15559 HGNC
Ensembl
ENSG00000250479 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 10
Likely pathogenic 0 2
Benign 0 42
Likely benign 0 176
Conflicting classifications of pathogenicity 0 18
no classification for the single variant 0 2
not provided 7 0
Uncertain significance 0 220
Ranking
ClinVar
0
0
76
354
4
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 C22orf16
SYNONYM FTDALS2
SYNONYM IMMD
SYNONYM MIX17A
SYNONYM N27C7-4
SYNONYM SMAJ
MIM 615903 OMIM
HGNC HGNC:15559 HGNC
Ensembl ENSG00000250479 Ensembl
AllianceGenome HGNC:15559
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000401675.7 hg38 chr22 23,765,834 23,767,942 2,109
ENST00000484558.3 hg38 chr22 23,765,834 23,767,972 2,139
ENST00000520222.1 hg38 chr22 23,765,834 23,767,876 2,043
ENST00000520222.1 hg19 chr22 24,108,021 24,110,063 2,043
ENST00000401675.7 hg19 chr22 24,108,021 24,110,129 2,109
ENST00000484558.3 hg19 chr22 24,108,021 24,110,159 2,139
Genome browser