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Variant (rsID / SNP)

rs7238500

SMAD4

rs7238500 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMAD4. Location: chromosome 18, position 48,584,802. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SMAD4Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
18:48584802
Cytoband
18q21.2
HGVS
NM_005359.6(SMAD4):c.880A>G (p.Met294Val)
Allele change
Missense_M294V

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Generalized juvenile polyposis/juvenile polyposis coli|Cardiovascular phenotype|Juvenile polyposis syndrome|Myhre syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.