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Variant Pathogenicity
TTC19
Name
TTC19
HGNC ID
HGNC:26006
Cytogenetic Location
17p12
Haploinsufficiency
Associated with Autosomal Recessive Phenotype
Triplosensitivity
No Evidence
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ClinVar Variants
TTC19
-
Leigh syndrome
| MONDO:0009723
Curated by
Classification
Date
Report
Gene-Disease Validity
Definitive
Autosomal Recessive
09/19/2019
View report
TTC19
-
mitochondrial complex III deficiency nuclear type 2
| MONDO:0014063
Curated by
Classification
Date
Report
Dosage Sensitivity
Gene Associated with Autosomal Recessive Phenotype
10/16/2018
View report
TTC19
Curated by
Classification
Date
Report
Dosage Sensitivity
Gene Associated with Autosomal Recessive Phenotype
10/16/2018
View report
No Evidence for Triplosensitivity
10/16/2018
View report
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