Variant (rsID / SNP)
rs281875322
rs281875322 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMAD4. Location: chromosome 18, position 48,604,676. Clinical significance in the table: Pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 18:48604676
- Cytoband
- 18q21.2
- HGVS
- NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val)
- Allele change
- Missense_I500V
Associated conditions / phenotypes
Myhre syndrome|Generalized juvenile polyposis/juvenile polyposis coli|Inborn genetic diseases|Generalized juvenile polyposis/juvenile polyposis coli|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome|Carcinoma of pancreas|Myhre syndrome|Generalized juvenile polyposis/juvenile polyposis coli|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome|Myhre syndrome|Intellectual disability|Juvenile polyposis syndrome|Neurodevelopmental delay
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.