STK19 serine/threonine kinase 19
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely pathogenic | 0 | 2 |
Likely benign | 0 | 4 |
not provided | 10 | 0 |
Uncertain significance | 0 | 58 |
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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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
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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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 | D6S60 |
SYNONYM | D6S60E |
SYNONYM | G11 |
SYNONYM | HLA-RP1 |
SYNONYM | RP1 |
MIM | 604977 OMIM |
HGNC | HGNC:11398 HGNC |
Ensembl | ENSG00000204344 Ensembl |
AllianceGenome | HGNC:11398 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000492583.6 | hg38 | chr6 | 31,971,899 | 31,981,164 | 9,266 |
ENST00000491861.6 | hg38 | chr6 | 31,972,555 | 31,981,446 | 8,892 |
ENST00000460018.3 | hg38 | chr6 | 31,971,166 | 31,981,446 | 10,281 |
ENST00000466132.6 | hg38 | chr6 | 31,971,091 | 31,981,446 | 10,356 |
ENST00000685781.1 | hg38 | chr6 | 31,972,363 | 31,981,446 | 9,084 |
ENST00000375333.4 | hg38 | chr6 | 31,971,944 | 31,981,446 | 9,503 |
ENST00000375331.8 | hg38 | chr6 | 31,971,831 | 31,981,451 | 9,621 |
ENST00000460018.3 | hg19 | chr6 | 31,938,943 | 31,949,223 | 10,281 |
ENST00000466132.6 | hg19 | chr6 | 31,938,868 | 31,949,223 | 10,356 |
ENST00000375331.8 | hg19 | chr6 | 31,939,608 | 31,949,228 | 9,621 |
ENST00000375333.4 | hg19 | chr6 | 31,939,721 | 31,949,223 | 9,503 |
ENST00000492583.6 | hg19 | chr6 | 31,939,676 | 31,948,941 | 9,266 |
ENST00000685781.1 | hg19 | chr6 | 31,940,140 | 31,949,223 | 9,084 |
ENST00000491861.6 | hg19 | chr6 | 31,940,332 | 31,949,223 | 8,892 |
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