KIF21A kinesin family member 21A
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 12 | 16 |
Likely pathogenic | 0 | 8 |
Benign | 38 | 124 |
Likely benign | 0 | 74 |
Conflicting classifications of pathogenicity | 0 | 10 |
not provided | 1 | 0 |
Uncertain significance | 0 | 270 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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64 |
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396 |
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12 |
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
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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 |
Search Word
Target data | : |
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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Category | : |
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Search word | : | |
Filtering | : |
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 |
---|---|
SYNONYM | CFEOM1 |
SYNONYM | FEOM1 |
SYNONYM | FEOM3A |
MIM | 608283 OMIM |
HGNC | HGNC:19349 HGNC |
Ensembl | ENSG00000139116 Ensembl |
AllianceGenome | HGNC:19349 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000544797.6 | hg38 | chr12 | 39,294,387 | 39,443,059 | 148,673 |
ENST00000361418.10 | hg38 | chr12 | 39,293,228 | 39,443,120 | 149,893 |
ENST00000541463.6 | hg38 | chr12 | 39,294,424 | 39,442,970 | 148,547 |
ENST00000361961.7 | hg38 | chr12 | 39,293,229 | 39,443,390 | 150,162 |
ENST00000361418.10 | hg19 | chr12 | 39,687,030 | 39,836,922 | 149,893 |
ENST00000361961.7 | hg19 | chr12 | 39,687,031 | 39,837,192 | 150,162 |
ENST00000544797.6 | hg19 | chr12 | 39,688,189 | 39,836,861 | 148,673 |
ENST00000541463.6 | hg19 | chr12 | 39,688,226 | 39,836,772 | 148,547 |
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