CHCHD1

Chr 10

coiled-coil-helix-coiled-coil-helix domain containing 1

Also known as: C10orf34, C2360, MRP-S37, mS37

NCBI Gene: 118487ENSG00000172586UniProt: Q96BP2OMIM: 608842

Enables RNA binding activity. Predicted to be involved in mitochondrial translation. Located in fibrillar center; mitochondrion; and nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.90
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.90LOEUF
pLI 0.000
Z-score -0.62
OE 1.29 (0.70–1.90)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.73Z-score
OE missense 0.75 (0.60–0.95)
53 obs / 70.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.29 (0.70–1.90)
0≤0.351.4
Missense OE?0.75 (0.60–0.95)
0≤0.61.4
Synonymous OE?0.97
0≤1.21.6
LoF obs/exp: 7 / 5.4Missense obs/exp: 53 / 70.2Syn Z: 0.12

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CHCHD1 · 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