NM_000498.3(CYP11B2):c.945C>T (p.Ser315=) AND Corticosterone methyloxidase type 2 deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 28, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000315028.5
Allele description [Variation Report for NM_000498.3(CYP11B2):c.945C>T (p.Ser315=)]
NM_000498.3(CYP11B2):c.945C>T (p.Ser315=)
Condition(s)
- Name:
- Corticosterone methyloxidase type 2 deficiency
- Synonyms:
- 18-OXIDASE DEFICIENCY; ALDOSTERONE DEFICIENCY DUE TO DEFICIENCY OF STEROID 18-OXIDASE; ALDOSTERONE DEFICIENCY II; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012524; MedGen: C3463917; Orphanet: 427; OMIM: 610600
-
transcription factor RelB isoform 1 [Mus musculus]
transcription factor RelB isoform 1 [Mus musculus]gi|31982053|ref|NP_033072.2|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Apr 6, 2024