AGTR1 angiotensin II receptor type 1
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 10 |
| Likely pathogenic | 0 | 10 |
| Benign | 0 | 40 |
| Likely benign | 0 | 40 |
| Conflicting classifications of pathogenicity | 0 | 10 |
| Uncertain significance | 0 | 138 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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36 |
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192 |
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6 |
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
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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | AG2S |
| SYNONYM | AGTR1B |
| SYNONYM | AT1 |
| SYNONYM | AT1AR |
| SYNONYM | AT1B |
| SYNONYM | AT1BR |
| SYNONYM | AT1R |
| SYNONYM | AT2R1 |
| SYNONYM | ATR1 |
| SYNONYM | HAT1R |
| MIM | 106165 OMIM |
| HGNC | HGNC:336 HGNC |
| Ensembl | ENSG00000144891 Ensembl |
| AllianceGenome | HGNC:336 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000475347.5 | hg38 | chr3 | 148,730,100 | 148,742,247 | 12,148 |
| ENST00000474935.5 | hg38 | chr3 | 148,730,100 | 148,742,247 | 12,148 |
| ENST00000418473.7 | hg38 | chr3 | 148,697,871 | 148,743,003 | 45,133 |
| ENST00000404754.2 | hg38 | chr3 | 148,697,918 | 148,743,008 | 45,091 |
| ENST00000402260.2 | hg38 | chr3 | 148,739,798 | 148,743,001 | 3,204 |
| ENST00000497524.5 | hg38 | chr3 | 148,697,784 | 148,743,003 | 45,220 |
| ENST00000349243.8 | hg38 | chr3 | 148,697,903 | 148,743,003 | 45,101 |
| ENST00000461609.1 | hg38 | chr3 | 148,730,124 | 148,742,247 | 12,124 |
| ENST00000497524.5 | hg19 | chr3 | 148,415,571 | 148,460,790 | 45,220 |
| ENST00000418473.7 | hg19 | chr3 | 148,415,658 | 148,460,790 | 45,133 |
| ENST00000349243.8 | hg19 | chr3 | 148,415,690 | 148,460,790 | 45,101 |
| ENST00000404754.2 | hg19 | chr3 | 148,415,705 | 148,460,795 | 45,091 |
| ENST00000474935.5 | hg19 | chr3 | 148,447,887 | 148,460,034 | 12,148 |
| ENST00000475347.5 | hg19 | chr3 | 148,447,887 | 148,460,034 | 12,148 |
| ENST00000461609.1 | hg19 | chr3 | 148,447,911 | 148,460,034 | 12,124 |
| ENST00000402260.2 | hg19 | chr3 | 148,457,585 | 148,460,788 | 3,204 |
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