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Variant (rsID / SNP)

rs148099152

BMPR2

rs148099152 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BMPR2. Location: chromosome 2, position 203,424,500. 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
2:203424500
Cytoband
2q33.2
HGVS
NM_001204.7(BMPR2):c.2948G>A (p.Arg983Gln)
Allele change
Missense_R983Q

Associated conditions / phenotypes

Pulmonary hypertension, primary, 1|8 conditions|Primary pulmonary hypertension

Public references

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