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Variant (rsID / SNP)

rs374694591

BMPR2

rs374694591 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BMPR2. Location: chromosome 2, position 203,383,720. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

BMPR2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:203383720
Cytoband
2q33.2
HGVS
NM_001204.7(BMPR2):c.797G>C (p.Arg266Thr)
Allele change
Missense_R266T

Associated conditions / phenotypes

Pulmonary hypertension, primary, 1|Pulmonary arterial hypertension associated with another disease|Pulmonary arterial hypertension

Public references

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