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Variant Pathogenicity
ERCC5
Name
ERCC5
HGNC ID
HGNC:3437
Cytogenetic Location
13q33.1
Haploinsufficiency
Associated with Autosomal Recessive Phenotype
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ClinVar Variants
ERCC5
-
xeroderma pigmentosum group G
| MONDO:0010216
Curated by
Classification
Date
Report
Gene-Disease Validity
Definitive
Autosomal Recessive
04/19/2019
View report
ERCC5
Curated by
Classification
Date
Report
Dosage Sensitivity
Gene Associated with Autosomal Recessive Phenotype
01/07/2019
View report
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