CLTC clathrin heavy chain

Information
Symbol
CLTC
Type
protein-coding
Description
clathrin heavy chain
Entrez Gene ID
1213
Genome
hg19
Position
chr17:57,697,266-57,772,126
Genome
hg38
Position
chr17:59,619,905-59,694,765
MIM
118955 OMIM
HGNC
HGNC:2092 HGNC
Ensembl
ENSG00000141367 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 88
Likely pathogenic 2 78
Benign 0 80
Likely benign 0 742
Conflicting classifications of pathogenicity 0 18
not provided 1 2
Uncertain significance 0 664
Ranking
ClinVar
0
0
106
1,502
24
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 CHC
SYNONYM CHC17
SYNONYM CLH-17
SYNONYM CLTCL2
SYNONYM Hc
SYNONYM MRD56
MIM 118955 OMIM
HGNC HGNC:2092 HGNC
Ensembl ENSG00000141367 Ensembl
AllianceGenome HGNC:2092
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000579456.5 hg38 chr17 59,619,932 59,694,114 74,183
ENST00000393043.5 hg38 chr17 59,619,858 59,690,826 70,969
ENST00000714241.1 hg38 chr17 59,619,680 59,695,112 75,433
ENST00000714242.1 hg38 chr17 59,619,912 59,694,763 74,852
ENST00000472651.6 hg38 chr17 59,619,910 59,695,071 75,162
ENST00000269122.8 hg38 chr17 59,619,895 59,696,956 77,062
ENST00000700715.2 hg38 chr17 59,619,825 59,693,973 74,149
ENST00000580081.2 hg38 chr17 59,619,905 59,694,765 74,861
ENST00000714180.1 hg38 chr17 59,619,906 59,694,765 74,860
ENST00000700714.2 hg38 chr17 59,619,895 59,694,559 74,665
ENST00000700713.1 hg38 chr17 59,619,926 59,693,852 73,927
ENST00000700712.1 hg38 chr17 59,619,923 59,694,758 74,836
ENST00000700711.1 hg38 chr17 59,619,917 59,694,730 74,814
ENST00000700710.1 hg38 chr17 59,619,908 59,694,730 74,823
ENST00000714182.1 hg38 chr17 59,619,926 59,694,692 74,767
ENST00000475458.3 hg38 chr17 59,619,895 59,687,147 67,253
ENST00000700709.1 hg38 chr17 59,619,900 59,694,650 74,751
ENST00000700708.1 hg38 chr17 59,619,869 59,694,748 74,880
ENST00000700707.1 hg38 chr17 59,619,684 59,694,750 75,067
ENST00000714241.1 hg19 chr17 57,697,041 57,772,473 75,433
ENST00000269122.8 hg19 chr17 57,697,256 57,774,317 77,062
ENST00000393043.5 hg19 chr17 57,697,219 57,768,187 70,969
ENST00000472651.6 hg19 chr17 57,697,271 57,772,432 75,162
ENST00000700713.1 hg19 chr17 57,697,287 57,771,213 73,927
ENST00000714182.1 hg19 chr17 57,697,287 57,772,053 74,767
ENST00000579456.5 hg19 chr17 57,697,293 57,771,475 74,183
ENST00000475458.3 hg19 chr17 57,697,256 57,764,508 67,253
ENST00000580081.2 hg19 chr17 57,697,266 57,772,126 74,861
ENST00000700707.1 hg19 chr17 57,697,045 57,772,111 75,067
ENST00000700708.1 hg19 chr17 57,697,230 57,772,109 74,880
ENST00000700709.1 hg19 chr17 57,697,261 57,772,011 74,751
ENST00000700710.1 hg19 chr17 57,697,269 57,772,091 74,823
ENST00000700711.1 hg19 chr17 57,697,278 57,772,091 74,814
ENST00000700712.1 hg19 chr17 57,697,284 57,772,119 74,836
ENST00000700714.2 hg19 chr17 57,697,256 57,771,920 74,665
ENST00000700715.2 hg19 chr17 57,697,186 57,771,334 74,149
ENST00000714180.1 hg19 chr17 57,697,267 57,772,126 74,860
ENST00000714242.1 hg19 chr17 57,697,273 57,772,124 74,852
KeyValue
strand+
start57,697,049
Gene SymbolCLTC
Entrez GeneId1,213
Chr Band17q11-qter
end57,774,316
chrchr17
Nameclathrin, heavy polypeptide (Hc)
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