AATK apoptosis associated tyrosine kinase
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 2 |
Likely benign | 0 | 22 |
not provided | 1 | 0 |
Uncertain significance | 0 | 238 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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262 |
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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
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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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 | AATYK |
SYNONYM | AATYK1 |
SYNONYM | LMR1 |
SYNONYM | LMTK1 |
SYNONYM | PPP1R77 |
SYNONYM | p35BP |
MIM | 605276 OMIM |
HGNC | HGNC:21 HGNC |
Ensembl | ENSG00000181409 Ensembl |
AllianceGenome | HGNC:21 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000326724.9 | hg38 | chr17 | 81,117,295 | 81,166,221 | 48,927 |
ENST00000417379.6 | hg38 | chr17 | 81,110,487 | 81,131,948 | 21,462 |
ENST00000417379.6 | hg19 | chr17 | 79,084,287 | 79,105,748 | 21,462 |
ENST00000326724.9 | hg19 | chr17 | 79,091,095 | 79,140,021 | 48,927 |
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