D105A (p.Asp105Ala) variant of NPHS1 (Nephrin)
D105A (p.Asp105Ala) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The record also includes structural context.
D105A (p.Asp105Ala) variant details
- p.Asp105Ala
- rs2513785055
- ClinGen CA405410950
- ClinVar RCV003040380
- Likely pathogenic
- not provided
- Missense
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available