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Variant Pathogenicity
FOLR1
Name
FOLR1
HGNC ID
HGNC:3791
Cytogenetic Location
11q13.4
Haploinsufficiency
Associated with Autosomal Recessive Phenotype
Triplosensitivity
No Evidence
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ClinVar Variants
FOLR1
-
neurodegenerative syndrome due to cerebral folate transport deficiency
| MONDO:0013110
Curated by
Classification
Date
Report
Gene-Disease Validity
Definitive
Autosomal Recessive
04/27/2018
View report
FOLR1
Curated by
Classification
Date
Report
Dosage Sensitivity
Gene Associated with Autosomal Recessive Phenotype
06/25/2019
View report
No Evidence for Triplosensitivity
06/25/2019
View report
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