Case
SR323
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
Hidden
SR323
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
Pedigree
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Retinitis Pigmentosa | MERTK | His721Gln CAT>CAA | Large deletion, including MERTK, breakpoint unknown | AR |
Disease:
Gene:
Allele 1:
His721Gln CAT>CAA
Allele 2:
Large deletion, including MERTK, breakpoint unknown
Inheritance:
AR