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Variant (rsID / SNP)

rs751420248

BMPR1A

rs751420248 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BMPR1A. Location: chromosome 10, position 88,635,802. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

BMPR1AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
10:88635802
Cytoband
10q23.2
HGVS
NM_004329.3(BMPR1A):c.27A>G (p.Arg9=)
Allele change
Synonymous_R9R

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Juvenile polyposis syndrome

Public references

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