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CRISPR/Cas9 technology introduced a G to C change at position 551 (c.551G>C) resulting in an arginine to proline substitution at amino acid 184 (R184P) in exon 4. The R184P missense variant was identified in an individual of a cohort of congenital heart disease patients, having tetralogy of Fallot with absent pulmonary valve and extra-cardiac phenotypes. (J:320934)
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
