A14R (p.Ala14Arg) variant of LMNA (Prelamin-A/C)
A14R (p.Ala14Arg) in LMNA (Prelamin-A/C) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
A14R (p.Ala14Arg) variant details
- p.Ala14Arg
- rs2527829451
- ClinGen CA2648345519
- ClinVar RCV003744526
- Pathogenic
- Frameshift
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)