ADIPOR1 adiponectin receptor 1
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 2 |
Benign | 0 | 12 |
Likely benign | 0 | 138 |
Uncertain significance | 0 | 160 |
Ranking
ClinVar | |
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0 |
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0 |
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2 |
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310 |
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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
[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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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 | ACDCR1 |
SYNONYM | CGI-45 |
SYNONYM | CGI45 |
SYNONYM | PAQR1 |
SYNONYM | TESBP1A |
MIM | 607945 OMIM |
HGNC | HGNC:24040 HGNC |
Ensembl | ENSG00000159346 Ensembl |
AllianceGenome | HGNC:24040 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000367254.7 | hg38 | chr1 | 202,941,490 | 202,958,264 | 16,775 |
ENST00000340990.10 | hg38 | chr1 | 202,940,832 | 202,958,312 | 17,481 |
ENST00000340990.10 | hg19 | chr1 | 202,909,960 | 202,927,440 | 17,481 |
ENST00000367254.7 | hg19 | chr1 | 202,910,618 | 202,927,392 | 16,775 |
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