CD40 CD40 molecule
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 10 |
Likely pathogenic | 0 | 6 |
Benign | 0 | 54 |
Likely benign | 0 | 278 |
Conflicting classifications of pathogenicity | 0 | 20 |
not provided | 1 | 0 |
Uncertain significance | 0 | 138 |
Ranking
ClinVar | |
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0 |
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0 |
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44 |
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426 |
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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
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 |
Search Word
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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SYNONYM | Bp50 |
SYNONYM | CDW40 |
SYNONYM | TNFRSF5 |
SYNONYM | p50 |
MIM | 109535 OMIM |
HGNC | HGNC:11919 HGNC |
Ensembl | ENSG00000101017 Ensembl |
AllianceGenome | HGNC:11919 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000372276.7 | hg38 | chr20 | 46,118,316 | 46,129,863 | 11,548 |
ENST00000372285.8 | hg38 | chr20 | 46,118,314 | 46,129,858 | 11,545 |
ENST00000695671.1 | hg38 | chr20 | 46,118,328 | 46,128,358 | 10,031 |
ENST00000372285.8 | hg19 | chr20 | 44,746,953 | 44,758,497 | 11,545 |
ENST00000372276.7 | hg19 | chr20 | 44,746,955 | 44,758,502 | 11,548 |
ENST00000695671.1 | hg19 | chr20 | 44,746,967 | 44,756,997 | 10,031 |
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