NM_001204.7(BMPR2):c.621+428_967+3995del AND Pulmonary arterial hypertension
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001003882.1
Allele description [Variation Report for NM_001204.7(BMPR2):c.621+428_967+3995del]
NM_001204.7(BMPR2):c.621+428_967+3995del
Condition(s)
- Name:
- Pulmonary arterial hypertension
- Identifiers:
- MONDO: MONDO:0015924; MeSH: D000081029; MedGen: C2973725; Orphanet: 182090; Human Phenotype Ontology: HP:0002092
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Last Updated: Aug 19, 2023