MCCD1 mitochondrial coiled-coil domain 1

Information
Symbol
MCCD1
Type
protein-coding
Description
mitochondrial coiled-coil domain 1
Entrez Gene ID
401250
Genome
hg19
Position
chr6:31,496,739-31,498,009
Genome
hg38
Position
chr6:31,528,962-31,530,232
MIM
609624 OMIM
HGNC
HGNC:20668 HGNC
Ensembl
ENSG00000204511 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
not provided 5 0
Uncertain significance 0 16
Ranking
ClinVar
0
0
0
18
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
MIM 609624 OMIM
HGNC HGNC:20668 HGNC
Ensembl ENSG00000204511 Ensembl
AllianceGenome HGNC:20668
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000376191.3 hg38 chr6 31,528,962 31,530,232 1,271
ENST00000376191.3 hg19 chr6 31,496,739 31,498,009 1,271
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