G29R (p.Gly29Arg) variant of TAFAZZIN (Q16635)
G29R (p.Gly29Arg) in TAFAZZIN (Q16635) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of 3-Methylglutaconic aciduria type 2; not provided. The record also includes published literature and structural context.
G29R (p.Gly29Arg) variant details
- p.Gly29Arg
- rs2522920099
- ClinGen CA415178487
- ClinVar RCV003512726
- ClinVar RCV004780595
- Uncertain significance
- 3-Methylglutaconic aciduria type 2; not provided
- Missense
- ClinVar: Uncertain significance (3-Methylglutaconic aciduria type 2; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Barth Syndrome. (PMID 25299040)