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CRISPR/Cas9 technology deleted a single base, T, at position 1008 (c.1008delT) resulting in a histidine to glycine substitution at residue 336 followed by a frameshift resulting in a premature stop codon 12 codons downstream (p.His336Glnfs*12). This is a pathogenic variant seen in patients with DOORS syndrome or early infantile epileptic encephalopathy 16. (J:299025)
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
