R34H (p.Arg34His) variant of TGFB2 (P61812)
R34H (p.Arg34His) in TGFB2 (P61812) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Loeys-Dietz syndrome 4; not provided. The record also includes published literature and structural context.
R34H (p.Arg34His) variant details
- p.Arg34His
- rs1064796462
- ClinGen CA16617062
- cosmic curated COSV65110
- ClinVar RCV000484113
- Uncertain significance
- Loeys-Dietz syndrome 4; not provided
- Missense
- ClinVar: Uncertain significance (Loeys-Dietz syndrome 4; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Loeys-Dietz Syndrome. (PMID 20301312)