Variant (rsID / SNP)

rs104893817

rs104893817 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGFBR2. Location: chromosome 3, position 30,715,615. Clinical significance in the table: Uncertain significance.

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Reference-table entries

TGFBR2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:30715615
Cytoband: 3p24.1
HGVS: NM_003242.6(TGFBR2):c.1273A>G (p.Met425Val)
Allele change: Missense_M425V

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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