Q23R (p.Gln23Arg) variant of SMAD3 (SMAD family member 3)
Q23R (p.Gln23Arg) in SMAD3 (SMAD family member 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Aneurysm-osteoarthritis syndrome. The record also includes published literature and structural context.
Q23R (p.Gln23Arg) variant details
- p.Gln23Arg
- rs2504999908
- ClinGen CA393202808
- ClinVar RCV004008156
- Uncertain significance
- Aneurysm-osteoarthritis syndrome
- Missense
- ClinVar: Uncertain significance (Aneurysm-osteoarthritis syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Loeys-Dietz Syndrome. (PMID 20301312)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)