Variant (rsID / SNP)
rs112215250
rs112215250 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGFBR2. Location: chromosome 3, position 30,733,044. 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
- 3:30733044
- Cytoband
- 3p24.1
- HGVS
- NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr)
- Allele change
- Missense_S553T
Associated conditions / phenotypes
Congenital aneurysm of ascending aorta|Loeys-Dietz syndrome|Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome|Cardiovascular phenotype|Connective tissue disorder|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.