Variant (rsID / SNP)

rs587782979

rs587782979 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGFBR2. Location: chromosome 3, position 30,715,724. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TGFBR2Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:30715724
Cytoband: 3p24.1
HGVS: NM_003242.6(TGFBR2):c.1382G>A (p.Cys461Tyr)
Allele change: Missense_C461Y

Associated conditions / phenotypes

Loeys-Dietz syndrome|Loeys-Dietz syndrome 2

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.