Variant (rsID / SNP)
rs104893819
rs104893819 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGFBR2. Location: chromosome 3, position 30,729,962. Clinical significance in the table: Pathogenic.
Reference-table entries
TGFBR2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:30729962
- Cytoband
- 3p24.1
- HGVS
- NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter)
- Allele change
- Nonsense_R495X
Associated conditions / phenotypes
Loeys-Dietz syndrome 2|Loeys-Dietz syndrome|Familial thoracic aortic aneurysm and aortic dissection|Loeys-Dietz syndrome 2|Colorectal cancer, hereditary nonpolyposis, type 6|Malignant tumor of esophagus
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.