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Variant (rsID / SNP)

rs2228048

TGFBR2

rs2228048 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGFBR2. Location: chromosome 3, position 30,713,842. Clinical significance in the table: Benign.

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Reference-table entries

TGFBR2Benign
Clinical significance (as recorded)
Benign
Variant type
single nucleotide variant
Chromosome / position
3:30713842
Cytoband
3p24.1
HGVS
NM_003242.6(TGFBR2):c.1167C>T (p.Asn389_Asp390=)
Allele change
Synonymous_N389N

Associated conditions / phenotypes

Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome|Loeys-Dietz syndrome|Cardiovascular phenotype|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.