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Gene profile

SCNN1B

HGNC:10600 · SaudiVarKB evidence summary derived from retained literature mentions.

4Gene mentions
4Publications
7Linked variants
3Associated phenotypes

Associated phenotypes

Co-mentioned in SCNN1B publications
PhenotypeIdentifierArticlesMentions
cystic fibrosis11
hypertension11
dyslipidemia11

Linked variants

Variants normalized to SCNN1B
VariantHGVS / rsIDArticlesMentions
c.1694C>Ac.1694C>A11
p.S565Xp.S565X11
p.T176Rfsp.T176Rfs11
c.1636G>Ac.1636G>A11
p.Asp546Asnp.Asp546Asn11
c.1573C>Tc.1573C>T11
p.Gln525*p.Gln525*11

Population context

Reported in the same publications
Country / regionGroupCohortArticles
Saudi Arabia1
Saudi Arabia221

Supporting publications

4 records
  1. 2026A Novel Homozygous SCNN1B Variant Causing Severe Systemic Pseudohypoaldosteronism Type 1B in a Saudi Infant: A Case Report.CureusPubMed ↗
  2. 2021Systemic pseudohypoaldosteronism-1 with episodic dyslipidemia in a Sudanese child.Endocrinology, diabetes & metabolism case reportsPubMed ↗
  3. 2021A Unique Genotype of Pseudohypoaldosteronism Type 1b in a Highly Consanguineous Population.Journal of the Endocrine SocietyPubMed ↗
  4. 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 ↗