CHCHD2 coiled-coil-helix-coiled-coil-helix domain containing 2

Information
Symbol
CHCHD2
Type
protein-coding
Description
coiled-coil-helix-coiled-coil-helix domain containing 2
Entrez Gene ID
51142
Genome
hg19
Position
chr7:56,169,266-56,174,169
Genome
hg38
Position
chr7:56,101,573-56,106,476
MIM
616244 OMIM
HGNC
HGNC:21645 HGNC
Ensembl
ENSG00000106153 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Benign 0 28
Likely benign 0 34
Conflicting classifications of pathogenicity 0 2
not provided 1 0
Uncertain significance 0 74
Ranking
ClinVar
0
0
14
118
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 C7orf17
SYNONYM MIX17B
SYNONYM MNRR1
SYNONYM NS2TP
SYNONYM PARK22
MIM 616244 OMIM
HGNC HGNC:21645 HGNC
Ensembl ENSG00000106153 Ensembl
AllianceGenome HGNC:21645
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000395422.4 hg38 chr7 56,101,573 56,106,476 4,904
ENST00000395422.4 hg19 chr7 56,169,266 56,174,169 4,904
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