Variant (rsID / SNP)

rs137852742

rs137852742 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BMPR2. Location: chromosome 2, position 203,329,673. Clinical significance in the table: Pathogenic.

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Reference-table entries

BMPR2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:203329673
Cytoband: 2q33.1
HGVS: NM_001204.7(BMPR2):c.218C>G (p.Ser73Ter)
Allele change: Nonsense_S73X

Associated conditions / phenotypes

Pulmonary hypertension, primary, 1|Pulmonary arterial hypertension

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.