Case
SR1832
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
Hidden
SR1832
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
Pedigree
| Age at visit: 59 years |
| Age at visit: 61 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Retinitis Pigmentosa | CRB1 | Asp165 del9cagGATGGAATT | Gly850Val GGC>GTC | AR |
Disease:
Gene:
Allele 1:
Asp165 del9cagGATGGAATT
Allele 2:
Gly850Val GGC>GTC
Inheritance:
AR