C8ORF58

Chr 8

chromosome 8 open reading frame 58

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
P/LP submissions
P/LP missense
1.05
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?
1.05LOEUF
pLI 0.000
Z-score 1.41
OE 0.60 (0.361.05)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.32Z-score
OE missense 1.06 (0.951.19)
225 obs / 211.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.60 (0.361.05)
00.351.4
Missense OE?1.06 (0.951.19)
00.61.4
Synonymous OE?1.07
01.21.6
LoF obs/exp: 9 / 14.9Missense obs/exp: 225 / 211.8Syn Z: -0.53

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

C8ORF58 · 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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