RAI1 retinoic acid induced 1
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 162 |
Likely pathogenic | 0 | 58 |
Benign | 12 | 428 |
Likely benign | 0 | 1,422 |
Conflicting classifications of pathogenicity | 0 | 354 |
not provided | 2 | 0 |
Uncertain significance | 0 | 1,450 |
Ranking
ClinVar | |
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0 |
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0 |
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666 |
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2,656 |
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22 |
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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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 | SMCR |
SYNONYM | SMS |
MIM | 607642 OMIM |
HGNC | HGNC:9834 HGNC |
Ensembl | ENSG00000108557 Ensembl |
AllianceGenome | HGNC:9834 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000353383.6 | hg38 | chr17 | 17,681,458 | 17,811,453 | 129,996 |
ENST00000353383.6 | hg19 | chr17 | 17,584,772 | 17,714,767 | 129,996 |
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