NDUFC1

Chr 4

NADH:ubiquinone oxidoreductase subunit C1

Also known as: KFYI

NCBI Gene: 4717ENSG00000109390UniProt: O43677OMIM: 603844

The encoded protein is a subunit of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

OMIMResearchGenerating clinical summary…
0
Active trials
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.27
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.27LOEUF
pLI 0.101
Z-score 1.21
OE 0.41 (0.17–1.27)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.65Z-score
OE missense 1.31 (1.03–1.66)
47 obs / 36.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.41 (0.17–1.27)
0≤0.351.4
Missense OE?1.31 (1.03–1.66)
0≤0.61.4
Synonymous OE?1.10
0≤1.21.6
LoF obs/exp: 2 / 4.9Missense obs/exp: 47 / 36.0Syn Z: -0.33

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

NDUFC1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients