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Variant (rsID / SNP)

rs148176750

TGFBR1

rs148176750 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGFBR1. Location: chromosome 9, position 101,894,862. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TGFBR1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:101894862
Cytoband
9q22.33
HGVS
NM_004612.4(TGFBR1):c.415A>G (p.Ile139Val)
Allele change
Silent

Associated conditions / phenotypes

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

Public references

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