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Variant (rsID / SNP)

rs56014374

TGFBR1

rs56014374 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGFBR1. Location: chromosome 9, position 101,894,904. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TGFBR1Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
9:101894904
Cytoband
9q22.33
HGVS
NM_004612.4(TGFBR1):c.457G>A (p.Val153Ile)
Allele change
Silent

Associated conditions / phenotypes

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

Public references

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