Variant (rsID / SNP)
rs137852753
rs137852753 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BMPR2. Location: chromosome 2, position 203,383,554. Clinical significance in the table: Pathogenic.
Reference-table entries
BMPR2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:203383554
- Cytoband
- 2q33.2
- HGVS
- NM_001204.7(BMPR2):c.631C>T (p.Arg211Ter)
- Allele change
- Nonsense_R211X
Associated conditions / phenotypes
Pulmonary hypertension, primary, dexfenfluramine-associated|Pulmonary hypertension, primary, 1|Pulmonary arterial hypertension|Pulmonary arterial hypertension|Idiopathic and/or familial pulmonary arterial hypertension|Primary pulmonary hypertension
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.