ClinGen Dosage Sensitivity Curation Page

NDUFV1

  • Curation Status: Complete

Location Information

Select assembly: (NC_000011.9) (NC_000011.10)

Haploinsufficiency phenotype comments:

Homozygous loss of function mutations in NDUFV1 are associated with the autosomal recessive condition mitochondrial complex I deficiency (Leigh syndrome). See Pagniez-Mammeri, et al (2012), PMID: 21703028 for review of disorder and mutations in NDUFV1.

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity