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Variant Pathogenicity
LOXHD1
Name
LOXHD1
HGNC ID
HGNC:26521
Cytogenetic Location
18q21.1
Haploinsufficiency
Associated with Autosomal Recessive Phenotype
Triplosensitivity
No Evidence
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ClinVar Variants
LOXHD1
-
nonsyndromic genetic deafness
| MONDO:0019497
Curated by
Classification
Date
Report
Gene-Disease Validity
Definitive
05/08/2018
View report
LOXHD1
-
autosomal recessive nonsyndromic deafness 77
| MONDO:0013119
Curated by
Classification
Date
Report
Gene Dosage Sensitivity
Gene Associated with Autosomal Recessive Phenotype
10/16/2018
View report
LOXHD1
Curated by
Classification
Date
Report
Gene Dosage Sensitivity
Gene Associated with Autosomal Recessive Phenotype
10/16/2018
View report
Gene Dosage Sensitivity
No Evidence for Triplosensitivity
10/16/2018
View report
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