Variant (rsID / SNP)

rs398122883

rs398122883 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGFB2. Location: chromosome 1, position 218,520,337. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TGFB2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: Deletion
Chromosome / position: 1:218520337
Cytoband: 1q41
HGVS: NM_003238.6(TGFB2):c.294_308del (p.Ala100_Tyr104del)

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.