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Variant (rsID / SNP)

rs35619497

BMPR1A

rs35619497 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BMPR1A. Location: chromosome 10, position 88,681,437. 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
10:88681437
Cytoband
10q23.2
HGVS
NM_004329.3(BMPR1A):c.1327C>T (p.Arg443Cys)
Allele change
Missense_R443C

Associated conditions / phenotypes

Generalized juvenile polyposis/juvenile polyposis coli|Hereditary cancer-predisposing syndrome|Polyposis syndrome, hereditary mixed, 2|Juvenile polyposis syndrome|Carcinoma of colon

Public references

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