NM_001204.7(BMPR2):c.295T>C (p.Cys99Arg) 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:
- RCV000488549.3
Allele description [Variation Report for NM_001204.7(BMPR2):c.295T>C (p.Cys99Arg)]
NM_001204.7(BMPR2):c.295T>C (p.Cys99Arg)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024