SCNN1A sodium channel epithelial 1 subunit alpha
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 34 |
| Likely pathogenic | 0 | 20 |
| Benign | 0 | 80 |
| Likely benign | 0 | 136 |
| Conflicting classifications of pathogenicity | 0 | 64 |
| Uncertain significance | 0 | 204 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
84 |
 |
342 |
 |
14 |
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 | |||||||||||
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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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| Filtering | : |
| 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 | BESC2 |
| SYNONYM | ENaCa |
| SYNONYM | ENaCalpha |
| SYNONYM | LIDLS3 |
| SYNONYM | PHA1B1 |
| SYNONYM | SCNEA |
| SYNONYM | SCNN1 |
| MIM | 600228 OMIM |
| HGNC | HGNC:10599 HGNC |
| Ensembl | ENSG00000111319 Ensembl |
| AllianceGenome | HGNC:10599 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000540037.5 | hg38 | chr12 | 6,346,847 | 6,364,147 | 17,301 |
| ENST00000228916.7 | hg38 | chr12 | 6,346,847 | 6,375,563 | 28,717 |
| ENST00000360168.7 | hg38 | chr12 | 6,346,843 | 6,375,224 | 28,382 |
| ENST00000396966.6 | hg38 | chr12 | 6,347,509 | 6,374,803 | 27,295 |
| ENST00000543768.1 | hg38 | chr12 | 6,347,684 | 6,377,359 | 29,676 |
| ENST00000360168.7 | hg19 | chr12 | 6,456,009 | 6,484,390 | 28,382 |
| ENST00000540037.5 | hg19 | chr12 | 6,456,013 | 6,473,313 | 17,301 |
| ENST00000228916.7 | hg19 | chr12 | 6,456,013 | 6,484,729 | 28,717 |
| ENST00000396966.6 | hg19 | chr12 | 6,456,675 | 6,483,969 | 27,295 |
| ENST00000543768.1 | hg19 | chr12 | 6,456,850 | 6,486,525 | 29,676 |
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