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Variant (rsID / SNP)

rs140592056

BMPR1A

rs140592056 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BMPR1A. Location: chromosome 10, position 88,681,353. 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
10:88681353
Cytoband
10q23.2
HGVS
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys)
Allele change
Missense_E415K

Associated conditions / phenotypes

Generalized juvenile polyposis/juvenile polyposis coli|Hereditary cancer-predisposing syndrome|Gastrointestinal polyposis|Malignant tumor of breast|Juvenile polyposis syndrome

Public references

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