NM_002234.4(KCNA5):c.229C>T (p.Pro77Ser) AND Pulmonary arterial hypertension
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Sep 26, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002285161.1
Allele description [Variation Report for NM_002234.4(KCNA5):c.229C>T (p.Pro77Ser)]
NM_002234.4(KCNA5):c.229C>T (p.Pro77Ser)
Condition(s)
- Name:
- Pulmonary arterial hypertension
- Identifiers:
- MONDO: MONDO:0015924; MeSH: D000081029; MedGen: C2973725; Orphanet: 182090; Human Phenotype Ontology: HP:0002092
Assertion and evidence details
Last Updated: Feb 28, 2024