Variant (rsID / SNP)
rs35766612
rs35766612 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGFBR2. Location: chromosome 3, position 30,713,834. 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
- 3:30713834
- Cytoband
- 3p24.1
- HGVS
- NM_003242.6(TGFBR2):c.1159G>T (p.Val387Leu)
- Allele change
- Missense_V387M
Associated conditions / phenotypes
Loeys-Dietz syndrome|Familial thoracic aortic aneurysm and aortic dissection|Vascular dilatation|Ascending tubular aorta aneurysm|Cardiovascular phenotype|Ehlers-Danlos syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.