Variant (rsID / SNP)
rs34833812
rs34833812 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGFBR2. Location: chromosome 3, position 30,713,619. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
TGFBR2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:30713619
- Cytoband
- 3p24.1
- HGVS
- NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met)
- Allele change
- Missense_T315M
Associated conditions / phenotypes
Colorectal cancer, hereditary nonpolyposis, type 6|Familial thoracic aortic aneurysm and aortic dissection|Loeys-Dietz syndrome|Marfan syndrome|Familial colorectal cancer|Cardiovascular phenotype|Loeys-Dietz syndrome 2|Ehlers-Danlos syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.