Log In|Sign Up
EN
CRISPR/Cas9 technology generated a G to A change at position 874 (c.874G>A) resulting in a glycine to arginine substitution at amino acid 292 (p.G292R) in exon 6. Three silent nucleotide mutations were also generated to prevent Cas9 editing. This variant is associated with poor performance in cochlear implant recipients with hearing loss. (J:332624)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
Show/Hide columns
| Phenotypes |
|---|
References Literature
Title
PMID
Journal
Year
IF
