Variant (rsID / SNP)

rs281875321

rs281875321 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMAD4. Location: chromosome 18, position 48,604,677. 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: 18:48604677
Cytoband: 18q21.2
HGVS: NM_005359.6(SMAD4):c.1499T>C (p.Ile500Thr)
Allele change: Missense_I500T

Associated conditions / phenotypes

Myhre 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.