Variant (rsID / SNP)

rs863224507

rs863224507 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMAD4. Location: chromosome 18, position 48,593,391. Clinical significance in the table: Pathogenic.

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Reference-table entries

SMAD4Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 18:48593391
Cytoband: 18q21.2
HGVS: NM_005359.6(SMAD4):c.1142T>A (p.Leu381Ter)
Allele change: Nonsense_L381X

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.