STRA8 stimulated by retinoic acid 8
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 2 | 0 |
Likely benign | 0 | 2 |
Uncertain significance | 0 | 20 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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22 |
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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
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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Target data | : |
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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MIM | 609987 OMIM |
HGNC | HGNC:30653 HGNC |
Ensembl | ENSG00000146857 Ensembl |
AllianceGenome | HGNC:30653 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000662584.2 | hg38 | chr7 | 135,233,838 | 135,258,663 | 24,826 |
ENST00000667288.1 | hg38 | chr7 | 135,231,979 | 135,258,492 | 26,514 |
ENST00000275764.3 | hg38 | chr7 | 135,231,979 | 135,258,492 | 26,514 |
ENST00000275764.3 | hg19 | chr7 | 134,916,731 | 134,943,244 | 26,514 |
ENST00000667288.1 | hg19 | chr7 | 134,916,731 | 134,943,244 | 26,514 |
ENST00000662584.2 | hg19 | chr7 | 134,918,590 | 134,943,415 | 24,826 |
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