Variant (rsID / SNP)
rs587776769
rs587776769 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGFBR2. Location: chromosome 3, position 30,732,983. Clinical significance in the table: Pathogenic.
Reference-table entries
TGFBR2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Microsatellite
- Chromosome / position
- 3:30732983
- Cytoband
- 3p24.1
- HGVS
- NM_003242.6(TGFBR2):c.1601_1602dup (p.Ala535fs)
Associated conditions / phenotypes
Colorectal cancer, hereditary nonpolyposis, type 6
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.