SYT12 synaptotagmin 12
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 2 |
not provided | 0 | 2 |
Uncertain significance | 0 | 64 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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66 |
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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
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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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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 |
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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 | SYT11 |
SYNONYM | sytXII |
MIM | 606436 OMIM |
HGNC | HGNC:18381 HGNC |
Ensembl | ENSG00000173227 Ensembl |
AllianceGenome | HGNC:18381 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000525457.5 | hg38 | chr11 | 67,022,719 | 67,048,939 | 26,221 |
ENST00000527043.6 | hg38 | chr11 | 67,023,134 | 67,050,863 | 27,730 |
ENST00000393946.6 | hg38 | chr11 | 67,006,778 | 67,050,863 | 44,086 |
ENST00000393946.6 | hg19 | chr11 | 66,774,249 | 66,818,334 | 44,086 |
ENST00000525457.5 | hg19 | chr11 | 66,790,190 | 66,816,410 | 26,221 |
ENST00000527043.6 | hg19 | chr11 | 66,790,605 | 66,818,334 | 27,730 |
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