C21ORF58

Chr 21

chromosome 21 open reading frame 58

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
P/LP submissions
P/LP missense
1.70
LOEUF
Mechanism
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?
1.70LOEUF
pLI 0.000
Z-score -0.53
OE 1.15 (0.781.70)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.35Z-score
OE missense 0.92 (0.811.06)
152 obs / 164.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.15 (0.781.70)
00.351.4
Missense OE?0.92 (0.811.06)
00.61.4
Synonymous OE?1.23
01.21.6
LoF obs/exp: 17 / 14.8Missense obs/exp: 152 / 164.7Syn Z: -1.48

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

C21ORF58 · 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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