Variant (rsID / SNP)

rs587777617

rs587777617 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGFB3. Location: chromosome 14, position 76,429,686. Clinical significance in the table: Pathogenic.

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Reference-table entries

TGFB3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:76429686
Cytoband: 14q24.3
HGVS: NM_003239.5(TGFB3):c.899G>A (p.Arg300Gln)
Allele change: Missense_R300Q

Associated conditions / phenotypes

Rienhoff syndrome|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.