SR2394
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
SR2394
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Pedigree
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Retinitis Pigmentosa | USH2A | Cys759Phe TGC>TTC | Glu767 del1tgtG | AR |
Disease:
Gene:
Allele 1:
Cys759Phe TGC>TTC
Allele 2:
Glu767 del1tgtG
Inheritance:
AR