SR237
AR Stargardt Disease (IIA)
Female
Female
SR237
AR Stargardt Disease (IIA)
Female
Female
Pedigree
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Ala1357Thr GCG>ACG | Gly1961Glu GGA>GAA / Arg681Gln CGA>CAA | AR |
Disease:
Gene:
Allele 1:
Ala1357Thr GCG>ACG
Allele 2:
Gly1961Glu GGA>GAA / Arg681Gln CGA>CAA
Inheritance:
AR