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Variant (rsID / SNP)

rs796051885

TGFB3

rs796051885 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGFB3. Location: chromosome 14, position 76,429,687. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

TGFB3Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
14:76429687
Cytoband
14q24.3
HGVS
NM_003239.5(TGFB3):c.898C>T (p.Arg300Trp)
Allele change
Missense_R300W

Associated conditions / phenotypes

Rienhoff syndrome|Loeys-Dietz syndrome 4|Cardiovascular phenotype|Familial thoracic aortic aneurysm and aortic dissection

Public references

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