NDUFB5 NADH:ubiquinone oxidoreductase subunit B5

Genome build
GRCh37 / hg19
Ensembl gene ID
ENSG00000136521
References
gnomAD, Ensembl, UCSC Browser,
Other studies
ASC, BipEx, Epi25

Gene Result

ClassConsequenceCasesControlsOdds RatioCase/Control P-valueDe NovosDe Novo P-value
PTV180.5021.00
Missense (MPC ≥ 3)00
Missense (3 > MPC ≥ 2)00-

Meta-analysis P-value: 1.00

Meta-analysis Q-value: 1.00

Constraint

CategoryExp. SNVsObs. SNVsConstraint metrics
Synonymous36.940Z = -0.4o/e = 1.08
Missense105.6106Z = -0.01o/e = 1
pLoF9.46pLI = 0o/e = 0.64
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