CD151 CD151 molecule (Raph blood group)
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 4 |
Likely pathogenic | 0 | 2 |
Benign | 0 | 60 |
Likely benign | 0 | 122 |
Conflicting classifications of pathogenicity | 0 | 4 |
Uncertain significance | 0 | 116 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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54 |
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236 |
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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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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 | EBS7 |
SYNONYM | GP27 |
SYNONYM | MER2 |
SYNONYM | PETA-3 |
SYNONYM | RAPH |
SYNONYM | SFA1 |
SYNONYM | TSPAN24 |
MIM | 602243 OMIM |
HGNC | HGNC:1630 HGNC |
Ensembl | ENSG00000177697 Ensembl |
AllianceGenome | HGNC:1630 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000528011.2 | hg38 | chr11 | 834,536 | 838,798 | 4,263 |
ENST00000322008.9 | hg38 | chr11 | 832,952 | 838,835 | 5,884 |
ENST00000397421.5 | hg38 | chr11 | 832,952 | 838,834 | 5,883 |
ENST00000397420.9 | hg38 | chr11 | 832,952 | 838,831 | 5,880 |
ENST00000397420.9 | hg19 | chr11 | 832,952 | 838,831 | 5,880 |
ENST00000397421.5 | hg19 | chr11 | 832,952 | 838,834 | 5,883 |
ENST00000322008.9 | hg19 | chr11 | 832,952 | 838,835 | 5,884 |
ENST00000528011.2 | hg19 | chr11 | 834,536 | 838,798 | 4,263 |
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