MATK megakaryocyte-associated tyrosine kinase
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 4 |
Likely benign | 0 | 6 |
Uncertain significance | 0 | 52 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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62 |
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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
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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Category | : |
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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 | CTK |
SYNONYM | HHYLTK |
SYNONYM | HYL |
SYNONYM | HYLTK |
SYNONYM | Lsk |
MIM | 600038 OMIM |
HGNC | HGNC:6906 HGNC |
Ensembl | ENSG00000007264 Ensembl |
AllianceGenome | HGNC:6906 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000395045.6 | hg38 | chr19 | 3,777,975 | 3,801,812 | 23,838 |
ENST00000395040.6 | hg38 | chr19 | 3,777,973 | 3,786,413 | 8,441 |
ENST00000310132.11 | hg38 | chr19 | 3,777,973 | 3,786,381 | 8,409 |
ENST00000585778.5 | hg38 | chr19 | 3,777,975 | 3,786,282 | 8,308 |
ENST00000619596.4 | hg38 | chr19 | 3,777,970 | 3,789,347 | 11,378 |
ENST00000619596.4 | hg19 | chr19 | 3,777,968 | 3,789,345 | 11,378 |
ENST00000310132.11 | hg19 | chr19 | 3,777,971 | 3,786,379 | 8,409 |
ENST00000395040.6 | hg19 | chr19 | 3,777,971 | 3,786,411 | 8,441 |
ENST00000585778.5 | hg19 | chr19 | 3,777,973 | 3,786,280 | 8,308 |
ENST00000395045.6 | hg19 | chr19 | 3,777,973 | 3,801,810 | 23,838 |
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