Variant (rsID / SNP)
rs186999445
rs186999445 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BMPR1A. Location: chromosome 10, position 88,676,885. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
BMPR1AConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:88676885
- Cytoband
- 10q23.2
- HGVS
- NM_004329.3(BMPR1A):c.676-6A>C
- Allele change
- Silent
Associated conditions / phenotypes
Generalized juvenile polyposis/juvenile polyposis coli|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.
