Log In|Sign Up
EN
CRISPR/Cas9 technology generated a G to A change at position 1325 resulting in a cysteine to tyrosine substitution at residue 442 in exon 13. The C442Y missense variant is seen in patients with autosomal dominant nonsyndromic hearing loss. (J:288210)
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
