NM_000787.4(DBH):c.275G>A (p.Arg92His) AND Orthostatic hypotension 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 12, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001309967.4
Allele description [Variation Report for NM_000787.4(DBH):c.275G>A (p.Arg92His)]
NM_000787.4(DBH):c.275G>A (p.Arg92His)
Condition(s)
- Name:
- Orthostatic hypotension 1 (ORTHYP1)
- Synonyms:
- Norepinephrine deficiency; Noradrenaline deficiency; Dopamine beta-hydroxylase deficiency, congenital; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009123; MedGen: C4746777; Orphanet: 230; OMIM: 223360
Assertion and evidence details
Last Updated: Feb 28, 2024