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Variant (rsID / SNP)

rs137852750

BMPR2

rs137852750 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BMPR2. Location: chromosome 2, position 203,332,361. 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
2:203332361
Cytoband
2q33.1
HGVS
NM_001204.7(BMPR2):c.367T>C (p.Cys123Arg)
Allele change
Missense_C123S

Associated conditions / phenotypes

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

Public references

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