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CRISPR/Cas9 technology deleted the nucleotide sequence (SQKLAQV) corresponding to amino acids 91-97 (91del7). This 91-del7 in-frame deletion within the N-terminal intracellular tail of the protein is one variant among about 35 potential pathogenic mutations identified in idiopathic infantile hypercalcemia patients. (J:338295)
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
