NM_001038.6(SCNN1A):c.1805C>T (p.Ala602Val) AND Autosomal recessive pseudohypoaldosteronism type 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001113424.4
Allele description [Variation Report for NM_001038.6(SCNN1A):c.1805C>T (p.Ala602Val)]
NM_001038.6(SCNN1A):c.1805C>T (p.Ala602Val)
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
-
PREDICTED: Mus musculus dynamin 1 (Dnm1), transcript variant X4, misc_RNA
PREDICTED: Mus musculus dynamin 1 (Dnm1), transcript variant X4, misc_RNAgi|1907134962|ref|XR_004938043.1|Nucleotide
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Last Updated: Aug 5, 2023