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Variant Pathogenicity
NDUFV1
Name
NDUFV1
HGNC ID
HGNC:7716
Cytogenetic Location
11q13.2
Haploinsufficiency
Associated with Autosomal Recessive Phenotype
Triplosensitivity
No Evidence
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ClinVar Variants
NDUFV1
-
Leigh syndrome
| MONDO:0009723
Curated by
Classification
Date
Report
Gene-Disease Validity
Definitive
Autosomal Recessive
11/26/2019
View report
NDUFV1
-
mitochondrial complex I deficiency
| MONDO:0009640
Curated by
Classification
Date
Report
Dosage Sensitivity
Gene Associated with Autosomal Recessive Phenotype
05/31/2017
View report
NDUFV1
Curated by
Classification
Date
Report
Dosage Sensitivity
Gene Associated with Autosomal Recessive Phenotype
05/31/2017
View report
No Evidence for Triplosensitivity
05/31/2017
View report
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