R78G (p.Arg78Gly) variant of MYLK (Q15746)
R78G (p.Arg78Gly) in MYLK (Q15746) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial thoracic aortic aneurysm and aortic dissection; Aortic aneurysm, famili. The record also includes published literature and structural context.
R78G (p.Arg78Gly) variant details
- p.Arg78Gly
- rs554364032
- ClinGen CA354244877
- ClinVar RCV003076880
- ClinVar RCV003349004
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Aortic aneurysm, famili
- Missense
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Aortic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)