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Variant Pathogenicity
SLC7A7
Name
SLC7A7
HGNC ID
HGNC:11065
Cytogenetic Location
14q11.2
Haploinsufficiency
Associated with Autosomal Recessive Phenotype
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ClinVar Variants
SLC7A7
-
lysinuric protein intolerance
| MONDO:0009109
Curated by
Classification
Date
Report
Gene-Disease Validity
Definitive
Autosomal Recessive
11/08/2019
View report
Dosage Sensitivity
Gene Associated with Autosomal Recessive Phenotype
10/17/2018
View report
SLC7A7
Curated by
Classification
Date
Report
Dosage Sensitivity
Gene Associated with Autosomal Recessive Phenotype
10/17/2018
View report
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