SR154
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
SR154
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 | Glu767 del1tgtG | Cys759Phe TGC>TTC | AR |
Disease:
Gene:
Allele 1:
Glu767 del1tgtG
Allele 2:
Cys759Phe TGC>TTC
Inheritance:
AR