KLC2 kinesin light chain 2
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 4 |
Benign | 0 | 26 |
Likely benign | 0 | 66 |
Conflicting classifications of pathogenicity | 0 | 2 |
Uncertain significance | 0 | 122 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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26 |
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188 |
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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
[No Data.]
Locus Zoom
Variants
Search Word
Target data | : |
MGeND data only
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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MGeND data only
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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MIM | 611729 OMIM |
HGNC | HGNC:20716 HGNC |
Ensembl | ENSG00000174996 Ensembl |
AllianceGenome | HGNC:20716 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000417856.5 | hg38 | chr11 | 66,257,294 | 66,267,859 | 10,566 |
ENST00000394078.5 | hg38 | chr11 | 66,257,719 | 66,267,829 | 10,111 |
ENST00000316924.9 | hg38 | chr11 | 66,257,703 | 66,267,860 | 10,158 |
ENST00000394067.7 | hg38 | chr11 | 66,257,703 | 66,267,860 | 10,158 |
ENST00000394065.2 | hg38 | chr11 | 66,260,913 | 66,267,859 | 6,947 |
ENST00000394066.6 | hg38 | chr11 | 66,258,545 | 66,267,859 | 9,315 |
ENST00000421552.5 | hg38 | chr11 | 66,257,703 | 66,267,859 | 10,157 |
ENST00000417856.5 | hg19 | chr11 | 66,024,765 | 66,035,330 | 10,566 |
ENST00000421552.5 | hg19 | chr11 | 66,025,174 | 66,035,330 | 10,157 |
ENST00000394067.7 | hg19 | chr11 | 66,025,174 | 66,035,331 | 10,158 |
ENST00000316924.9 | hg19 | chr11 | 66,025,174 | 66,035,331 | 10,158 |
ENST00000394078.5 | hg19 | chr11 | 66,025,190 | 66,035,300 | 10,111 |
ENST00000394066.6 | hg19 | chr11 | 66,026,016 | 66,035,330 | 9,315 |
ENST00000394065.2 | hg19 | chr11 | 66,028,384 | 66,035,330 | 6,947 |
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