CCDC73

Chr 11

coiled-coil domain containing 73

Also known as: NY-SAR-79

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
P/LP submissions
P/LP missense
0.99
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.99LOEUF
pLI 0.000
Z-score 1.59
OE 0.75 (0.570.99)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.88Z-score
OE missense 0.89 (0.820.96)
439 obs / 494.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.75 (0.570.99)
00.351.4
Missense OE?0.89 (0.820.96)
00.61.4
Synonymous OE?1.01
01.21.6
LoF obs/exp: 35 / 46.7Missense obs/exp: 439 / 494.1Syn Z: -0.09

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CCDC73 · 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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