Case
SR527
Student Mode
Type 2 Usher Syndrome (IB1b)
Male
Male
Hidden
SR527
Student Mode
Type 2 Usher Syndrome (IB1b)
Male
Male
Pedigree
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Type 2 Usher Syndrome | CEP78 | Ser147Leu TCG>TTG | Ser147Leu TCG>TTG | AR |
Disease:
Gene:
Allele 1:
Ser147Leu TCG>TTG
Allele 2:
Ser147Leu TCG>TTG
Inheritance:
AR