AGTR2 angiotensin II receptor type 2
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely pathogenic | 1 | 0 |
Benign | 0 | 12 |
Likely benign | 0 | 12 |
Conflicting classifications of pathogenicity | 0 | 2 |
not provided | 7 | 0 |
Uncertain significance | 0 | 66 |
Ranking
ClinVar | |
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0 |
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0 |
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14 |
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68 |
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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
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 |
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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 | AT2 |
SYNONYM | ATGR2 |
SYNONYM | MRX88 |
MIM | 300034 OMIM |
HGNC | HGNC:338 HGNC |
Ensembl | ENSG00000180772 Ensembl |
AllianceGenome | HGNC:338 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000681852.1 | hg38 | chrX | 116,170,747 | 116,173,372 | 2,626 |
ENST00000371906.5 | hg38 | chrX | 116,170,744 | 116,174,974 | 4,231 |
ENST00000371906.5 | hg19 | chrX | 115,301,997 | 115,306,227 | 4,231 |
ENST00000681852.1 | hg19 | chrX | 115,302,000 | 115,304,625 | 2,626 |
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