A48G (p.Ala48Gly) variant of MYLK (Q15746)
A48G (p.Ala48Gly) in MYLK (Q15746) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Aortic aneurysm, familial thoracic 7. The record also includes published literature and structural context.
A48G (p.Ala48Gly) variant details
- p.Ala48Gly
- rs1060502537
- ClinGen CA16611342
- ClinVar RCV000465436
- Ensembl rs1060502537
- Uncertain significance
- Aortic aneurysm, familial thoracic 7
- Missense
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 7)
- 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)