Variant (rsID / SNP)
rs149755320
rs149755320 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMAD4. Location: chromosome 18, position 48,604,751. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SMAD4Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 18:48604751
- Cytoband
- 18q21.2
- HGVS
- NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val)
- Allele change
- Missense_I525V
Associated conditions / phenotypes
Cardiovascular phenotype|Generalized juvenile polyposis/juvenile polyposis coli|Gastrointestinal polyposis|Myhre syndrome|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Familial thoracic aortic aneurysm and aortic dissection|Juvenile polyposis syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.