Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs878854714

TGFBR1

rs878854714 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGFBR1. Location: chromosome 9, position 101,867,536. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

TGFBR1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:101867536
Cytoband
9q22.33
HGVS
NM_004612.4(TGFBR1):c.49C>T (p.Leu17=)
Allele change
Synonymous_L17L

Associated conditions / phenotypes

Familial thoracic aortic aneurysm and aortic dissection|Loeys-Dietz syndrome 1

Public references

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