CHKA choline kinase alpha
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely pathogenic | 0 | 8 |
Likely benign | 0 | 2 |
Uncertain significance | 0 | 40 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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50 |
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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
[No Data.]
Locus Zoom
Variants
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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 |
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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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SYNONYM | CHK |
SYNONYM | CK |
SYNONYM | CKI |
SYNONYM | EK |
SYNONYM | NEDMIMS |
MIM | 118491 OMIM |
HGNC | HGNC:1937 HGNC |
Ensembl | ENSG00000110721 Ensembl |
AllianceGenome | HGNC:1937 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000265689.9 | hg38 | chr11 | 68,052,859 | 68,121,388 | 68,530 |
ENST00000356135.9 | hg38 | chr11 | 68,053,820 | 68,121,444 | 67,625 |
ENST00000265689.9 | hg19 | chr11 | 67,820,326 | 67,888,855 | 68,530 |
ENST00000356135.9 | hg19 | chr11 | 67,821,287 | 67,888,911 | 67,625 |
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