NM_001204.7(BMPR2):c.785T>C (p.Val262Ala) AND Primary pulmonary hypertension
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 16, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003596725.2
Allele description [Variation Report for NM_001204.7(BMPR2):c.785T>C (p.Val262Ala)]
NM_001204.7(BMPR2):c.785T>C (p.Val262Ala)
Condition(s)
- Name:
- Primary pulmonary hypertension (PPH1)
- Identifiers:
- MONDO: MONDO:0001999; MedGen: C0152171
Assertion and evidence details
Last Updated: Sep 29, 2024