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Variant Pathogenicity
PLCB1
Name
PLCB1
HGNC ID
HGNC:15917
Cytogenetic Location
20p12.3
Haploinsufficiency
Associated with Autosomal Recessive Phenotype
Triplosensitivity
No Evidence
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ClinVar Variants
PLCB1
-
epileptic encephalopathy, early infantile, 12
| MONDO:0013389
Curated by
Classification
Date
Report
Gene-Disease Validity
Definitive
Autosomal Recessive
09/19/2020
View report
Dosage Sensitivity
Gene Associated with Autosomal Recessive Phenotype
10/23/2018
View report
PLCB1
Curated by
Classification
Date
Report
Dosage Sensitivity
Gene Associated with Autosomal Recessive Phenotype
10/23/2018
View report
No Evidence for Triplosensitivity
10/23/2018
View report
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