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EN
CRISPR/Cas9 technology generated a G to T transversion at position 44 (c.44G>T) within exon 2 resulting in an arginine to leucine substitution at amino acid 15 (p.R15L). In addition, a synonymous substitution, c.G48T (p.Leu16Leu) was introduced to protect from further re-processing. The p.Arg15Leu variant is identified in patients with familial hypocalciuric hypercalcemia 3. (J:317261)
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
