Variant (rsID / SNP)

rs778214495

rs778214495 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGFB3. Location: chromosome 14, position 76,446,943. Clinical significance in the table: Likely benign.

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Reference-table entries

TGFB3Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 14:76446943
Cytoband: 14q24.3
HGVS: NM_003239.5(TGFB3):c.294G>A (p.Ser98=)
Allele change: Synonymous_S98S

Associated conditions / phenotypes

Loeys-Dietz syndrome 4|Cardiovascular phenotype

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.