NPPA natriuretic peptide A
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 2 |
| Benign | 4 | 42 |
| Likely benign | 0 | 104 |
| Conflicting classifications of pathogenicity | 0 | 2 |
| Uncertain significance | 0 | 150 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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40 |
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250 |
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2 |
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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
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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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | ANF |
| SYNONYM | ANP |
| SYNONYM | ATFB6 |
| SYNONYM | ATRST2 |
| SYNONYM | CDD |
| SYNONYM | CDD-ANF |
| SYNONYM | CDP |
| SYNONYM | PND |
| MIM | 108780 OMIM |
| HGNC | HGNC:7939 HGNC |
| Ensembl | ENSG00000175206 Ensembl |
| AllianceGenome | HGNC:7939 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000376476.1 | hg38 | chr1 | 11,845,879 | 11,848,345 | 2,467 |
| ENST00000376480.7 | hg38 | chr1 | 11,845,709 | 11,847,783 | 2,075 |
| ENST00000376480.7 | hg19 | chr1 | 11,905,766 | 11,907,840 | 2,075 |
| ENST00000376476.1 | hg19 | chr1 | 11,905,936 | 11,908,402 | 2,467 |
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