Variant (rsID / SNP)

rs193922661

rs193922661 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGFBR2. Location: chromosome 3, position 30,713,827. 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: 3:30713827
Cytoband: 3p24.1
HGVS: NM_003242.6(TGFBR2):c.1152T>A (p.Asn384Lys)
Allele change: Missense_N384K

Associated conditions / phenotypes

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.