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Variant (rsID / SNP)

rs869025535

TGFBR1

rs869025535 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGFBR1. Location: chromosome 9, position 101,904,947. Clinical significance in the table: Uncertain significance.

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Reference-table entries

TGFBR1Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
9:101904947
Cytoband
9q22.33
HGVS
NM_004612.4(TGFBR1):c.935G>A (p.Gly312Asp)
Allele change
Missense_G235D

Associated conditions / phenotypes

Familial thoracic aortic aneurysm and aortic dissection|Disproportionate tall stature|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.