Variant (rsID / SNP)
rs377767347
rs377767347 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMAD4. Location: chromosome 18, position 48,591,919. Clinical significance in the table: Pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 18:48591919
- Cytoband
- 18q21.2
- HGVS
- NM_005359.6(SMAD4):c.1082G>A (p.Arg361His)
- Allele change
- Missense_R361P
Associated conditions / phenotypes
Squamous cell carcinoma of the head and neck|Carcinoma of esophagus|Pancreatic adenocarcinoma|Neoplasm of uterine cervix|Neoplasm of the large intestine|Breast neoplasm|Lung adenocarcinoma|Gastric adenocarcinoma|Hereditary cancer-predisposing syndrome|Juvenile polyposis syndrome|Generalized juvenile polyposis/juvenile polyposis coli|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome|Carcinoma of pancreas|Myhre syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.