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CRISPR/Cas9 technology generated a CT to TG change at position 533-534 (c.533C>T, c.534T>G) resulting in a serine to leucine substitution at amino acid 178 (p.Ser178Leu). This is a pathogenic variant seen in patients with autosomal dominant nonsyndromic deafness 65. (J:299025)
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：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
