NM_000336.3(SCNN1B):c.1401C>T (p.Ser467=) AND Autosomal recessive pseudohypoaldosteronism type 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000312543.5
Allele description [Variation Report for NM_000336.3(SCNN1B):c.1401C>T (p.Ser467=)]
NM_000336.3(SCNN1B):c.1401C>T (p.Ser467=)
Condition(s)
- Name:
- Autosomal recessive pseudohypoaldosteronism type 1 (PHA1B1)
- Synonyms:
- Pseudohypoaldosteronism, Type I, Autosomal Recessive; PHA I, AUTOSOMAL RECESSIVE; Pseudohypoaldosteronism, Type I, Recessive; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009917; MedGen: C5774176; Orphanet: 171876; Orphanet: 756; OMIM: 264350
Assertion and evidence details
Last Updated: Feb 20, 2024