Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs876658515

BMPR1A

rs876658515 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BMPR1A. Location: chromosome 10, position 88,683,228. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

BMPR1AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
10:88683228
Cytoband
10q23.2
HGVS
NM_004329.3(BMPR1A):c.1438C>T (p.Arg480Trp)
Allele change
Missense_R480W

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Juvenile polyposis syndrome|Polyposis syndrome, hereditary mixed, 2

Public references

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