Variant (rsID / SNP)

rs878854672

rs878854672 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BMPR1A. Location: chromosome 10, position 88,672,142. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

BMPR1ALikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:88672142
Cytoband: 10q23.2
HGVS: NM_004329.3(BMPR1A):c.675+1G>C
Allele change: Silent

Associated conditions / phenotypes

Generalized juvenile polyposis/juvenile polyposis coli|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.