C2CD4D

Chr 1

C2 calcium dependent domain containing 4D

Also known as: FAM148D

NCBI Gene: 100191040ENSG00000225556UniProt: B7Z1M9

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.80
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.80LOEUF
pLI 0.130
Z-score 0.51
OE 0.58 (0.19–1.80)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.56Z-score
OE missense 0.84 (0.70–1.01)
80 obs / 95.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.58 (0.19–1.80)
0≤0.351.4
Missense OE?0.84 (0.70–1.01)
0≤0.61.4
Synonymous OE?0.97
0≤1.21.6
LoF obs/exp: 1 / 1.7Missense obs/exp: 80 / 95.4Syn Z: 0.16

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

C2CD4D · 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