Case
SR1745
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Hidden
SR1745
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Pedigree
| Age at visit: 47 years |
| Age at visit: 48 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Retinitis Pigmentosa | EYS | Cys2139Tyr TGT>TAT | Glu2703Stop GAG>TAG | AR |
Disease:
Gene:
Allele 1:
Cys2139Tyr TGT>TAT
Allele 2:
Glu2703Stop GAG>TAG
Inheritance:
AR