NM_000336.3(SCNN1B):c.1162C>T (p.Arg388Cys) AND Autosomal recessive pseudohypoaldosteronism type 1
- Germline classification:
- Benign (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:
- RCV000340036.5
Allele description [Variation Report for NM_000336.3(SCNN1B):c.1162C>T (p.Arg388Cys)]
NM_000336.3(SCNN1B):c.1162C>T (p.Arg388Cys)
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
-
Gene Links for GEO Profiles (Select 39265518) (1)
Gene
-
MT3 metallothionein 3 [Homo sapiens]
MT3 metallothionein 3 [Homo sapiens]Gene ID:4504Gene
-
Chromosome neighbors for GEO Profiles (Select 72219289) (20)
GEO Profiles
-
Homo sapiens
Homo sapiensRefSeq annotation of the human reference genome assemblyBioProject
-
BioProject Links for Protein (Select 2217317862) (1)
BioProject
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Last Updated: May 7, 2024