Variant (rsID / SNP)

rs398122884

rs398122884 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGFB2. Location: chromosome 1, position 218,610,774. Clinical significance in the table: Pathogenic.

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Reference-table entries

TGFB2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 1:218610774
Cytoband: 1q41
HGVS: NM_003238.6(TGFB2):c.1022_1026del (p.Tyr341fs)

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.