KIF22 kinesin family member 22
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 6 |
Likely pathogenic | 0 | 12 |
Benign | 0 | 82 |
Likely benign | 0 | 234 |
Conflicting classifications of pathogenicity | 0 | 22 |
not provided | 9 | 0 |
Uncertain significance | 0 | 284 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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84 |
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514 |
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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
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 |
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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SYNONYM | A-328A3.2 |
SYNONYM | KID |
SYNONYM | KNSL4 |
SYNONYM | OBP |
SYNONYM | OBP-1 |
SYNONYM | OBP-2 |
SYNONYM | SEMDJL2 |
MIM | 603213 OMIM |
HGNC | HGNC:6391 HGNC |
Ensembl | ENSG00000079616 Ensembl |
AllianceGenome | HGNC:6391 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000561482.6 | hg38 | chr16 | 29,790,968 | 29,805,384 | 14,417 |
ENST00000160827.9 | hg38 | chr16 | 29,790,751 | 29,805,384 | 14,634 |
ENST00000689660.1 | hg38 | chr16 | 29,790,741 | 29,805,385 | 14,645 |
ENST00000569382.3 | hg38 | chr16 | 29,790,741 | 29,805,353 | 14,613 |
ENST00000400751.9 | hg38 | chr16 | 29,790,971 | 29,805,384 | 14,414 |
ENST00000690258.1 | hg38 | chr16 | 29,790,727 | 29,805,385 | 14,659 |
ENST00000689107.1 | hg38 | chr16 | 29,790,757 | 29,805,384 | 14,628 |
ENST00000690258.1 | hg19 | chr16 | 29,802,048 | 29,816,706 | 14,659 |
ENST00000160827.9 | hg19 | chr16 | 29,802,072 | 29,816,705 | 14,634 |
ENST00000400751.9 | hg19 | chr16 | 29,802,292 | 29,816,705 | 14,414 |
ENST00000561482.6 | hg19 | chr16 | 29,802,289 | 29,816,705 | 14,417 |
ENST00000689107.1 | hg19 | chr16 | 29,802,078 | 29,816,705 | 14,628 |
ENST00000569382.3 | hg19 | chr16 | 29,802,062 | 29,816,674 | 14,613 |
ENST00000689660.1 | hg19 | chr16 | 29,802,062 | 29,816,706 | 14,645 |
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