Variant (rsID / SNP)

rs786201040

rs786201040 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BMPR1A. Location: chromosome 10, position 88,683,357. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

BMPR1APathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:88683357
Cytoband: 10q23.2
HGVS: NM_004329.3(BMPR1A):c.1480C>T (p.Arg494Ter)
Allele change: Nonsense_R494X

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.