C10ORF71
Chr 10ADchromosome 10 open reading frame 71
Also known as: CEFIP, CMD1QQ
This protein activates the calcineurin/NFAT signaling pathway in cardiomyocytes and regulates myocardium morphogenesis, mass, and contractile function. Mutations cause autosomal dominant dilated cardiomyopathy (type 1QQ), primarily affecting cardiac muscle function and structure.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
121 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 3 | 0 | 39 | 0 | 42 |
Likely Pathogenic | 0 | 0 | 22 | 0 | 22 |
VUS | 1 | 14 | 30 | 0 | 45 |
Likely Benign | 0 | 1 | 0 | 0 | 1 |
Benign | 0 | 5 | 0 | 2 | 7 |
| Total | 4 | 20 | 91 | 2 | 117 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
C10ORF71 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools