C125AfsX4 variant of FERMT1 (Fermitin family homolog 1)
C125AfsX4 in FERMT1 (Fermitin family homolog 1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
C125AfsX4 variant details
- rs869312723
- Pathogenic
- Missense
- EBI: ['pathogenic']
- UniProt: Pathogenic
- Structural context available