Variant (rsID / SNP)

rs587783038

rs587783038 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BMPR1A. Location: chromosome 10, position 88,649,866. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

BMPR1ALikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: Insertion
Chromosome / position: 10:88649866
Cytoband: 10q23.2
HGVS: NM_004329.3(BMPR1A):c.115_116insA (p.Ser39fs)

Associated conditions / phenotypes

Generalized juvenile polyposis/juvenile polyposis coli

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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