NPR1 natriuretic peptide receptor 1
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 6 |
Likely benign | 0 | 16 |
Uncertain significance | 0 | 70 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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92 |
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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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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 | ANPRA |
SYNONYM | ANPa |
SYNONYM | GUC2A |
SYNONYM | GUCY2A |
SYNONYM | NPRA |
MIM | 108960 OMIM |
HGNC | HGNC:7943 HGNC |
Ensembl | ENSG00000169418 Ensembl |
AllianceGenome | HGNC:7943 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000368680.4 | hg38 | chr1 | 153,678,688 | 153,693,992 | 15,305 |
ENST00000368680.4 | hg19 | chr1 | 153,651,164 | 153,666,468 | 15,305 |
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