CLHC1 clathrin heavy chain linker domain containing 1

Information
Symbol
CLHC1
Type
protein-coding
Description
clathrin heavy chain linker domain containing 1
Entrez Gene ID
130162
Genome
hg19
Position
chr2:55,399,683-55,459,429
Genome
hg38
Position
chr2:55,172,547-55,232,293
HGNC
HGNC:26453 HGNC
Ensembl
ENSG00000162994 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 2
Likely benign 0 6
not provided 1 0
Uncertain significance 0 68
Ranking
ClinVar
0
0
0
74
2
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 C2orf63
HGNC HGNC:26453 HGNC
Ensembl ENSG00000162994 Ensembl
AllianceGenome HGNC:26453
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000407122.5 hg38 chr2 55,175,649 55,232,158 56,510
ENST00000406076.5 hg38 chr2 55,175,669 55,232,563 56,895
ENST00000401408.6 hg38 chr2 55,172,547 55,232,293 59,747
ENST00000401408.6 hg19 chr2 55,399,683 55,459,429 59,747
ENST00000407122.5 hg19 chr2 55,402,785 55,459,294 56,510
ENST00000406076.5 hg19 chr2 55,402,805 55,459,699 56,895
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