Variant (rsID / SNP)
rs144378484
rs144378484 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMAD4. Location: chromosome 18, position 48,584,774. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
SMAD4Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 18:48584774
- Cytoband
- 18q21.2
- HGVS
- NM_005359.6(SMAD4):c.852A>G (p.Gln284=)
- Allele change
- Synonymous_Q284Q
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Generalized juvenile polyposis/juvenile polyposis coli|Cardiovascular phenotype|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome|Myhre syndrome|Juvenile polyposis syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.