SCNN1A
HGNC:10599 · SaudiVarKB evidence summary derived from retained literature mentions.
4Gene mentions
4Publications
9Linked variants
1Associated phenotypes
Associated phenotypes
Co-mentioned in SCNN1A publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| hypertension | — | 1 | 1 |
Linked variants
Variants normalized to SCNN1A| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| c.729_730delAG | c.729_730delAG | 1 | 1 |
| c.1496A>G | c.1496A>G | 1 | 1 |
| p.Q499R | p.Q499R | 1 | 1 |
| c.1453C>T | c.1453C>T | 1 | 1 |
| p.Q485X | p.Q485X | 1 | 1 |
| c.1322_1322delA | c.1322_1322delA | 1 | 1 |
| p.N441Tfs | p.N441Tfs | 1 | 1 |
| p.I68Tfs | p.I68Tfs | 1 | 1 |
| c.1522C>T | c.1522C>T | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Saudi Arabia | — | — | 1 |
| Saudi Arabia | — | 22 | 1 |
Supporting publications
4 records- 2024Pseudohypoaldosteronism Type 1b in a Saudi Female Infant Due to Homozygous Variant Gene Mutation in SCNN1A: A Case Report.CureusPubMed ↗
- 2022A Novel SCNN1A Variation in a Patient with Autosomal-recessive Pseudohypoaldosteronism Type 1.Journal of clinical research in pediatric endocrinologyPubMed ↗
- 2021A Unique Genotype of Pseudohypoaldosteronism Type 1b in a Highly Consanguineous Population.Journal of the Endocrine SocietyPubMed ↗
- 2021A Rare Case of Familiar Hypertension Presenting with Hypertensive Encephalopathy in an Elderly Patient: A Diagnostic Dilemma: A Presentation of Liddle's Syndrome due to Novel Mutation in SCNN1G Gene.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi ArabiaPubMed ↗