Variant (rsID / SNP)

rs193922664

rs193922664 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGFBR2. Location: chromosome 3, position 30,732,927. 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: 3:30732927
Cytoband: 3p24.1
HGVS: NM_003242.6(TGFBR2):c.1540T>C (p.Cys514Arg)
Allele change: Missense_C514R

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.