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Variant profile

c.1522C>T

c.1522C>T · SaudiVarKB evidence summary derived from retained literature mentions.

1Variant mentions
1Publications
1Associated gene records
0Associated phenotype records

Associated gene records

Co-mentioned in the same publications
GeneIdentifier / contextArticlesMentions
SCNN1AHGNC:1059911

Associated phenotype records

Co-mentioned in the same publications

No retained phenotype associations.

Associated population records

Co-mentioned in the same publications
PopulationIdentifier / contextArticlesMentions
Saudi Arabia11

Supporting publications

1 records
  1. 2024Pseudohypoaldosteronism Type 1b in a Saudi Female Infant Due to Homozygous Variant Gene Mutation in SCNN1A: A Case Report.CureusPubMed ↗