Variant (rsID / SNP)

rs137852747

rs137852747 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BMPR2. Location: chromosome 2, position 203,378,530. 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: 2:203378530
Cytoband: 2q33.2
HGVS: NM_001204.7(BMPR2):c.507C>A (p.Cys169Ter)
Allele change: Nonsense_C169X

Associated conditions / phenotypes

Pulmonary hypertension, primary, 1

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.