Variant (rsID / SNP)

rs376354795

rs376354795 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGFB2. Location: chromosome 1, position 218,609,355. Clinical significance in the table: Likely benign.

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Reference-table entries

TGFB2Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:218609355
Cytoband: 1q41
HGVS: NM_003238.6(TGFB2):c.798T>A (p.Thr266=)
Allele change: Synonymous_T294T

Associated conditions / phenotypes

Loeys-Dietz syndrome 4

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.