SEMA6B semaphorin 6B
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 4 | 16 |
Likely pathogenic | 0 | 16 |
Benign | 0 | 32 |
Likely benign | 0 | 108 |
Conflicting classifications of pathogenicity | 0 | 6 |
Uncertain significance | 0 | 164 |
Ranking
ClinVar | |
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0 |
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0 |
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28 |
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288 |
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8 |
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 |
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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 | EPM11 |
SYNONYM | SEM-SEMA-Y |
SYNONYM | SEM-SEMA-Z |
SYNONYM | SEMA-VIB |
SYNONYM | SEMAN |
SYNONYM | semaZ |
MIM | 608873 OMIM |
HGNC | HGNC:10739 HGNC |
Ensembl | ENSG00000167680 Ensembl |
AllianceGenome | HGNC:10739 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000676793.1 | hg38 | chr19 | 4,542,593 | 4,581,776 | 39,184 |
ENST00000586965.1 | hg38 | chr19 | 4,542,914 | 4,558,457 | 15,544 |
ENST00000586582.6 | hg38 | chr19 | 4,542,593 | 4,559,684 | 17,092 |
ENST00000586582.6 | hg19 | chr19 | 4,542,605 | 4,559,696 | 17,092 |
ENST00000676793.1 | hg19 | chr19 | 4,542,605 | 4,581,788 | 39,184 |
ENST00000586965.1 | hg19 | chr19 | 4,542,926 | 4,558,469 | 15,544 |
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