Variant (rsID / SNP)

rs137852754

rs137852754 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BMPR2. Location: chromosome 2, position 203,379,626. Clinical significance in the table: Uncertain significance.

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Reference-table entries

BMPR2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:203379626
Cytoband: 2q33.2
HGVS: NM_001204.7(BMPR2):c.545G>A (p.Gly182Asp)
Allele change: Missense_G182D

Associated conditions / phenotypes

Pulmonary hypertension, primary, fenfluramine-associated|9 conditions|Pulmonary hypertension, primary, 1

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.