R100del variant of FERMT1 (Fermitin family homolog 1)
For R100del in FERMT1 (Fermitin family homolog 1), CATVariant brings together the available evidence for this variant. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
R100del variant details
- rs869312720
- Pathogenic
- EBI: ['pathogenic']
- UniProt: Pathogenic
- Structural context available