C3AR1 complement C3a receptor 1
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely pathogenic | 0 | 2 |
Benign | 0 | 4 |
Likely benign | 0 | 8 |
Uncertain significance | 0 | 68 |
Ranking
ClinVar | |
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0 |
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0 |
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2 |
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76 |
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4 |
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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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 | AZ3B |
SYNONYM | C3AR |
SYNONYM | HNFAG09 |
MIM | 605246 OMIM |
HGNC | HGNC:1319 HGNC |
Ensembl | ENSG00000171860 Ensembl |
AllianceGenome | HGNC:1319 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000307637.5 | hg38 | chr12 | 8,056,844 | 8,066,359 | 9,516 |
ENST00000307637.5 | hg19 | chr12 | 8,209,440 | 8,218,955 | 9,516 |
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