SBNO1 strawberry notch homolog 1
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 16 |
Likely benign | 0 | 8 |
Uncertain significance | 0 | 72 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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94 |
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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
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 |
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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 |
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 | MOP3 |
SYNONYM | Sno |
MIM | 614274 OMIM |
HGNC | HGNC:22973 HGNC |
Ensembl | ENSG00000139697 Ensembl |
AllianceGenome | HGNC:22973 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000420886.6 | hg38 | chr12 | 123,289,109 | 123,350,441 | 61,333 |
ENST00000602398.3 | hg38 | chr12 | 123,289,109 | 123,364,847 | 75,739 |
ENST00000267176.8 | hg38 | chr12 | 123,289,109 | 123,364,843 | 75,735 |
ENST00000420886.6 | hg19 | chr12 | 123,773,656 | 123,834,988 | 61,333 |
ENST00000267176.8 | hg19 | chr12 | 123,773,656 | 123,849,390 | 75,735 |
ENST00000602398.3 | hg19 | chr12 | 123,773,656 | 123,849,394 | 75,739 |
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