Variant (rsID / SNP)

rs2228545

rs2228545 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BMPR2. Location: chromosome 2, position 203,420,712. Clinical significance in the table: Benign.

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Reference-table entries

BMPR2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:203420712
Cytoband: 2q33.2
HGVS: NM_001204.7(BMPR2):c.2324G>A (p.Ser775Asn)
Allele change: Missense_S775N

Associated conditions / phenotypes

Pulmonary hypertension, primary, 1|Primary pulmonary 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.