Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs768385200

TGFBR2

rs768385200 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGFBR2. Location: chromosome 3, position 30,691,865. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

TGFBR2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:30691865
Cytoband
3p24.1
HGVS
NM_003242.6(TGFBR2):c.367A>T (p.Met123Leu)
Allele change
Missense_M123L

Associated conditions / phenotypes

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

Public references

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