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Variant (rsID / SNP)

rs201067849

BMPR2

rs201067849 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BMPR2. Location: chromosome 2, position 203,395,591. 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
2:203395591
Cytoband
2q33.2
HGVS
NM_001204.7(BMPR2):c.1042G>A (p.Val348Ile)
Allele change
Missense_V348I

Associated conditions / phenotypes

Pulmonary hypertension, primary, 1|Primary pulmonary hypertension|Genetic non-acquired premature ovarian failure|Tooth agenesis, selective, 1

Public references

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