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Variant (rsID / SNP)

rs370006165

TGFB3

rs370006165 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGFB3. Location: chromosome 14, position 76,429,712. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TGFB3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
14:76429712
Cytoband
14q24.3
HGVS
NM_003239.5(TGFB3):c.873G>A (p.Pro291=)
Allele change
Synonymous_P291P

Associated conditions / phenotypes

Loeys-Dietz syndrome 4|Cardiovascular phenotype

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.