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Variant profile

p.Asp546Asn

p.Asp546Asn · SaudiVarKB evidence summary derived from retained literature mentions.

1Variant mentions
1Publications
1Associated gene records
2Associated phenotype records

Associated gene records

Co-mentioned in the same publications
GeneIdentifier / contextArticlesMentions
SCNN1BHGNC:1060011

Associated phenotype records

Co-mentioned in the same publications
PhenotypeIdentifier / contextArticlesMentions
cystic fibrosis11
dyslipidemia11

Associated population records

Co-mentioned in the same publications

No retained population associations.

Supporting publications

1 records
  1. 2021Systemic pseudohypoaldosteronism-1 with episodic dyslipidemia in a Sudanese child.Endocrinology, diabetes & metabolism case reports1 mentions