NM_000020.3(ACVRL1):c.536A>C (p.Asp179Ala) AND Pulmonary hypertension, primary, 1
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000488472.2
Allele description [Variation Report for NM_000020.3(ACVRL1):c.536A>C (p.Asp179Ala)]
NM_000020.3(ACVRL1):c.536A>C (p.Asp179Ala)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024