KCTD7 potassium channel tetramerization domain containing 7

Information
Symbol
KCTD7
Type
protein-coding
Description
potassium channel tetramerization domain containing 7
Entrez Gene ID
154881
Genome
hg19
Position
chr7:66,093,868-66,108,034
Genome
hg38
Position
chr7:66,628,881-66,643,047
MIM
611725 OMIM
HGNC
HGNC:21957 HGNC
Ensembl
ENSG00000243335 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 34
Likely pathogenic 0 34
Benign 0 52
Likely benign 0 266
Affects 0 2
Conflicting classifications of pathogenicity 0 42
Conflicting classifications of pathogenicity; Affects 0 2
Uncertain significance 0 404
Ranking
ClinVar
0
0
112
646
22
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
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 CLN14
SYNONYM EPM3
MIM 611725 OMIM
HGNC HGNC:21957 HGNC
Ensembl ENSG00000243335 Ensembl
AllianceGenome HGNC:21957
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000639879.1 hg38 chr7 66,629,053 66,643,024 13,972
ENST00000640385.1 hg38 chr7 66,628,885 66,643,032 14,148
ENST00000275532.8 hg38 chr7 66,628,885 66,643,017 14,133
ENST00000640851.1 hg38 chr7 66,629,054 66,643,026 13,973
ENST00000639828.2 hg38 chr7 66,628,881 66,643,047 14,167
ENST00000443322.1 hg38 chr7 66,628,943 66,640,565 11,623
ENST00000639828.2 hg19 chr7 66,093,868 66,108,034 14,167
ENST00000275532.8 hg19 chr7 66,093,872 66,108,004 14,133
ENST00000640385.1 hg19 chr7 66,093,872 66,108,019 14,148
ENST00000443322.1 hg19 chr7 66,093,930 66,105,552 11,623
ENST00000639879.1 hg19 chr7 66,094,040 66,108,011 13,972
ENST00000640851.1 hg19 chr7 66,094,041 66,108,013 13,973
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