Variant (rsID / SNP)

rs104893816

rs104893816 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGFBR2. Location: chromosome 3, position 30,715,721. 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: 3:30715721
Cytoband: 3p24.1
HGVS: NM_003242.6(TGFBR2):c.1379G>A (p.Arg460His)
Allele change: Missense_R460H

Associated conditions / phenotypes

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.