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C2ORF73

Chr 2

ciliary microtubule inner protein 6

Also known as: C2orf73

Predicted to be located in cilium. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
P/LP submissions
P/LP missense
1.62
LOEUF
Mechanism
Some data sources returned errors (1)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/C2ORF73?content-type=application/json

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.62LOEUF
pLI 0.000
Z-score 0.08
OE 0.97 (0.601.62)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.57Z-score
OE missense 1.14 (1.001.31)
150 obs / 131.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.97 (0.601.62)
00.351.4
Missense OE?1.14 (1.001.31)
00.61.4
Synonymous OE?1.28
01.21.6
LoF obs/exp: 10 / 10.3Missense obs/exp: 150 / 131.5Syn Z: -1.51

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

C2ORF73 · 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

No active trials found for this gene.

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