Case
SR1651
Student Mode
Type 2 Usher Syndrome (IB1b)
Female
Female
Hidden
SR1651
Student Mode
Type 2 Usher Syndrome (IB1b)
Female
Female
Pedigree
| Age at visit: 25 years |
| Age at visit: 27 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Type 2 Usher Syndrome | USH2A | Glu767 del1tgtG | Complex Deletion_Including Exon 27; HG19:216247745-216250332 deleted_216250333-216250413 preserved_216250414-216252638 deleted | AR |
Disease:
Gene:
Allele 1:
Glu767 del1tgtG
Allele 2:
Complex Deletion_Including Exon 27; HG19:216247745-216250332 deleted_216250333-216250413 preserved_216250414-216252638 deleted
Inheritance:
AR