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Variant (rsID / SNP)

rs149533093

TGFB2

rs149533093 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGFB2. Location: chromosome 1, position 218,578,520. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TGFB2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:218578520
Cytoband
1q41
HGVS
NM_003238.6(TGFB2):c.356C>T (p.Pro119Leu)
Allele change
Missense_P147L

Associated conditions / phenotypes

Loeys-Dietz syndrome 4|Aortic aneurysm|Cardiovascular phenotype|Familial thoracic aortic aneurysm and aortic dissection|Ehlers-Danlos syndrome

Public references

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