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A G to A change at position 674 (c.674G>A) resulting in an arginine to glutamine substitution at amino acid 225 (p.R225Q) was introduced in exon 6 and a loxP-flanked neomycin cassette was inserted downstream of exon 6. This is a novel non-synonymous variant associated with idiopathic dilated cardiomyopathy in human located in the S4 segment domain I (DI-S4). (J:342506)
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
