Variant (rsID / SNP)

rs139881155

rs139881155 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGFBR2. Location: chromosome 3, position 30,729,937. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TGFBR2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:30729937
Cytoband: 3p24.1
HGVS: NM_003242.6(TGFBR2):c.1458C>T (p.Ser486_Met487=)
Allele change: Synonymous_S486S

Associated conditions / phenotypes

Familial thoracic aortic aneurysm and aortic dissection|Cardiovascular phenotype

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.