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EN
CRISPR/Cas9 technology generated a T to G change at position 38 (c.38T>G) resulting in a leucine to arginine substitution at amino acid 13 (p.L13R) in exon 1. Additional silent mutations were inserted into exon 1 to generate a Hind III restriction site for genotyping. The p.L13R variant has been identified in patients with arrhythmic cardiomyopathy. (J:337558)
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
