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Variant (rsID / SNP)

rs886039551

TGFBR2

rs886039551 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGFBR2. Location: chromosome 3, position 30,715,678. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

TGFBR2Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
3:30715678
Cytoband
3p24.1
HGVS
NM_003242.6(TGFBR2):c.1336G>A (p.Asp446Asn)
Allele change
Missense_D446N

Associated conditions / phenotypes

Loeys-Dietz syndrome 1|Familial thoracic aortic aneurysm and aortic dissection|Loeys-Dietz syndrome 2

Public references

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