Variant (rsID / SNP)

rs137852748

rs137852748 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BMPR2. Location: chromosome 2, position 203,421,005. 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: 2:203421005
Cytoband: 2q33.2
HGVS: NM_001204.7(BMPR2):c.2617C>T (p.Arg873Ter)
Allele change: Nonsense_R873X

Associated conditions / phenotypes

Pulmonary hypertension, primary, 1|Pulmonary arterial hypertension|Primary pulmonary hypertension|Pulmonary arterial hypertension|Idiopathic and/or familial 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.