Variant (rsID / SNP)

rs149787558

rs149787558 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BMPR1A. Location: chromosome 10, position 88,683,191. Clinical significance in the table: Likely benign.

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Reference-table entries

BMPR1ALikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 10:88683191
Cytoband: 10q23.2
HGVS: NM_004329.3(BMPR1A):c.1401C>T (p.Tyr467=)
Allele change: Synonymous_Y467Y

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.