Case
SR1856
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Hidden
SR1856
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Pedigree
| Age at visit: 16 years |
| Age at visit: 17 years |
| Age at visit: 18 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Retinitis Pigmentosa | CNGA1 | Arg514Stop CGA>TGA | Leu637Arg CTG>CGG | AR |
Disease:
Gene:
Allele 1:
Arg514Stop CGA>TGA
Allele 2:
Leu637Arg CTG>CGG
Inheritance:
AR