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Variant (rsID / SNP)

rs193922665

TGFBR2

rs193922665 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGFBR2. Location: chromosome 3, position 30,691,808. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TGFBR2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:30691808
Cytoband
3p24.1
HGVS
NM_003242.6(TGFBR2):c.310C>T (p.Pro104Ser)
Allele change
Missense_P104S

Associated conditions / phenotypes

Loeys-Dietz syndrome|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.