CLCN6 chloride voltage-gated channel 6

Information
Symbol
CLCN6
Type
protein-coding
Description
chloride voltage-gated channel 6
Entrez Gene ID
1185
Genome
hg19
Position
chr1:11,866,248-11,903,187
Genome
hg38
Position
chr1:11,806,191-11,843,130
MIM
602726 OMIM
HGNC
HGNC:2024 HGNC
Ensembl
ENSG00000011021 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 0
Benign 0 82
Likely benign 0 706
Conflicting classifications of pathogenicity 0 12
Uncertain significance 0 802
Ranking
ClinVar
0
0
78
1,510
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 :
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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 CLC-6
SYNONYM CONRIBA
MIM 602726 OMIM
HGNC HGNC:2024 HGNC
Ensembl ENSG00000011021 Ensembl
AllianceGenome HGNC:2024
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000376496.4 hg38 chr1 11,806,260 11,839,050 32,791
ENST00000312413.10 hg38 chr1 11,806,096 11,843,143 37,048
ENST00000346436.11 hg38 chr1 11,806,191 11,843,130 36,940
ENST00000312413.10 hg19 chr1 11,866,153 11,903,200 37,048
ENST00000346436.11 hg19 chr1 11,866,248 11,903,187 36,940
ENST00000376496.4 hg19 chr1 11,866,317 11,899,107 32,791
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