rs199842745

This is a splice region variant variant in the NDUFA11 gene.

▶

ClinVar annotation

Pathogenic★★★☆
6 submitters2 publications

Mitochondrial complex I deficiency, nuclear type 1

View on ClinVar →

About NDUFA11

This gene encodes a subunit of the membrane-bound mitochondrial complex I. Complex I is composed of numerous subunits and functions as the NADH-ubiquinol reductase of the mitochondrial electron transport chain. Mutations in this gene are associated with severe mitochondrial complex I deficiency. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]

View all NDUFA11 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…