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CRISPR/Cas9 technology generated an A to C change at position 136 (c.136A>C) resulting in a lysine to glutamine substitution at amino acid 46 (p.K46Q). A few silent nucleotide changes upstream of the mutation were also introduced to facilitate genotyping. This is a disease-causing variant identified in a consanguineous family diagnosed with Smith McCort dysplasia. (J:338833)
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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References Literature
Title
PMID
Journal
Year
IF
