Variant (rsID / SNP)

rs587780107

rs587780107 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BMPR1A. Location: chromosome 10, position 88,681,327. Clinical significance in the table: Uncertain significance.

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Reference-table entries

BMPR1AUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 10:88681327
Cytoband: 10q23.2
HGVS: NM_004329.3(BMPR1A):c.1217G>A (p.Arg406His)
Allele change: Missense_R406H

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Juvenile polyposis syndrome

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.