Variant (rsID / SNP)
rs35719192
rs35719192 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGFBR2. Location: chromosome 3, position 30,713,794. 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
- 3:30713794
- Cytoband
- 3p24.1
- HGVS
- NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile)
- Allele change
- Missense_M373I
Associated conditions / phenotypes
Loeys-Dietz syndrome|Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome|Cardiovascular phenotype|Connective tissue disorder|Ehlers-Danlos syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.