SYT8 synaptotagmin 8
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 4 |
Likely benign | 0 | 2 |
Uncertain significance | 0 | 70 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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76 |
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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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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 |
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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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MIM | 607719 OMIM |
HGNC | HGNC:19264 HGNC |
Ensembl | ENSG00000149043 Ensembl |
AllianceGenome | HGNC:19264 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000381968.7 | hg38 | chr11 | 1,834,444 | 1,837,521 | 3,078 |
ENST00000341958.4 | hg38 | chr11 | 1,834,990 | 1,837,521 | 2,532 |
ENST00000381968.7 | hg19 | chr11 | 1,855,674 | 1,858,751 | 3,078 |
ENST00000341958.4 | hg19 | chr11 | 1,856,220 | 1,858,751 | 2,532 |
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