Variant (rsID / SNP)

rs727504292

rs727504292 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGFBR2. Location: chromosome 3, position 30,713,742. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TGFBR2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:30713742
Cytoband: 3p24.1
HGVS: NM_003242.6(TGFBR2):c.1067G>C (p.Arg356Pro)
Allele change: Missense_R356P

Associated conditions / phenotypes

Loeys-Dietz syndrome|Loeys-Dietz syndrome 2|Familial thoracic aortic aneurysm and aortic dissection

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.