SYT7 synaptotagmin 7
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 2 |
Likely benign | 0 | 4 |
Uncertain significance | 0 | 36 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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40 |
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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
[No Data.]
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 |
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Target data | : |
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 | IPCA-7 |
SYNONYM | IPCA7 |
SYNONYM | PCANAP7 |
SYNONYM | SYT-VII |
SYNONYM | SYTVII |
MIM | 604146 OMIM |
HGNC | HGNC:11514 HGNC |
Ensembl | ENSG00000011347 Ensembl |
AllianceGenome | HGNC:11514 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000539008.6 | hg38 | chr11 | 61,513,714 | 61,581,076 | 67,363 |
ENST00000542670.5 | hg38 | chr11 | 61,518,627 | 61,580,871 | 62,245 |
ENST00000263846.8 | hg38 | chr11 | 61,515,313 | 61,581,148 | 65,836 |
ENST00000535826.5 | hg38 | chr11 | 61,518,627 | 61,580,872 | 62,246 |
ENST00000540677.5 | hg38 | chr11 | 61,518,057 | 61,580,826 | 62,770 |
ENST00000542836.5 | hg38 | chr11 | 61,518,627 | 61,580,838 | 62,212 |
ENST00000539008.6 | hg19 | chr11 | 61,281,186 | 61,348,548 | 67,363 |
ENST00000263846.8 | hg19 | chr11 | 61,282,785 | 61,348,620 | 65,836 |
ENST00000540677.5 | hg19 | chr11 | 61,285,529 | 61,348,298 | 62,770 |
ENST00000542836.5 | hg19 | chr11 | 61,286,099 | 61,348,310 | 62,212 |
ENST00000542670.5 | hg19 | chr11 | 61,286,099 | 61,348,343 | 62,245 |
ENST00000535826.5 | hg19 | chr11 | 61,286,099 | 61,348,344 | 62,246 |
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