Variant (rsID / SNP)

rs1230919713

rs1230919713 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BMPR1A. Location: chromosome 10, position 88,677,049. Clinical significance in the table: Pathogenic.

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Reference-table entries

BMPR1APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:88677049
Cytoband: 10q23.2
HGVS: NM_004329.3(BMPR1A):c.834C>A (p.Tyr278Ter)
Allele change: Nonsense_Y278X

Associated conditions / phenotypes

Juvenile polyposis syndrome

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.