Variant (rsID / SNP)

rs869312903

rs869312903 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGFB2. Location: chromosome 1, position 218,609,461. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

TGFB2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:218609461
Cytoband: 1q41
HGVS: NM_003238.6(TGFB2):c.904C>T (p.Arg302Cys)
Allele change: Missense_R330C

Associated conditions / phenotypes

Loeys-Dietz syndrome 4|Inborn genetic diseases|Aortic aneurysm, familial thoracic, TGFB2 related

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.