rs148226917

This variant is located in the NDUFS3 gene.

ClinVar annotation

Likely Benign★★★
4 submitters2 publications

not provided; NDUFS3-related disorder

View on ClinVar →

About NDUFS3

This gene encodes one of the iron-sulfur protein (IP) components of mitochondrial NADH:ubiquinone oxidoreductase (complex I). Mutations in this gene are associated with Leigh syndrome resulting from mitochondrial complex I deficiency.[provided by RefSeq, Apr 2009]

View all NDUFS3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…