NDUFA6-DT

Chr 22

NDUFA6 divergent transcript

11
ClinVar variants
7
Pathogenic / LP
pLI score
0
Active trials
Clinical SummaryNDUFA6-DT
📋
ClinVar Variants
7 Pathogenic / Likely Pathogenic· 1 VUS of 11 total submissions

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

11 submitted variants in ClinVar

Classification Summary

Pathogenic7
VUS1
7
Pathogenic
1
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
7
Likely Pathogenic
0
VUS
1
Likely Benign
0
Benign
0
Total8

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

NDUFA6-DT · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →