Variant (rsID / SNP)

rs397516840

rs397516840 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGFBR2. Location: chromosome 3, position 30,729,974. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

TGFBR2Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:30729974
Cytoband: 3p24.1
HGVS: NM_003242.6(TGFBR2):c.1495G>T (p.Glu499Ter)
Allele change: Nonsense_E499X

Associated conditions / phenotypes

Loeys-Dietz syndrome

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.