Case
SR486
Student Mode
AD Retinitis Pigmentosa (IA1aii)
Female
Female
Hidden
SR486
Student Mode
AD Retinitis Pigmentosa (IA1aii)
Female
Female
Pedigree
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AD Retinitis Pigmentosa | SNRNP200 | Ser1087Leu TCG>TTG | AD |
Disease:
Gene:
Allele 1:
Ser1087Leu TCG>TTG
Allele 2:
Inheritance:
AD