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Variant (rsID / SNP)

rs104893815

TGFBR2

rs104893815 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGFBR2. Location: chromosome 3, position 30,732,970. Clinical significance in the table: Pathogenic.

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Reference-table entries

TGFBR2Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
3:30732970
Cytoband
3p24.1
HGVS
NM_003242.6(TGFBR2):c.1583G>A (p.Arg528His)
Allele change
Missense_R528H

Associated conditions / phenotypes

Colorectal cancer, hereditary nonpolyposis, type 6|Loeys-Dietz syndrome 2|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.