Variant (rsID / SNP)

rs121918711

rs121918711 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGFBR1. Location: chromosome 9, position 101,908,835. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TGFBR1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:101908835
Cytoband: 9q22.33
HGVS: NM_004612.4(TGFBR1):c.1199A>G (p.Asp400Gly)
Allele change: Missense_D323G

Associated conditions / phenotypes

Loeys-Dietz syndrome 1

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.