C8ORF48
Chr 8chromosome 8 open reading frame 48
ResearchGenerating clinical summary…
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?
1.65LOEUF
pLI 0.000
Z-score 0.30
OE 0.87 (0.48–1.65)
Highly tolerant — LoF variants common in population
Missense Constraint?
-1.23Z-score
OE missense 1.27 (1.14–1.43)
204 obs / 160.1 exp
Tolerant to missense variation
Observed / Expected Ratios?
LoF OE?0.87 (0.48–1.65)
0≤0.351.4
Missense OE?1.27 (1.14–1.43)
0≤0.61.4
Synonymous OE?1.28
0≤1.21.6
LoF obs/exp: 6 / 6.9Missense obs/exp: 204 / 160.1Syn Z: -1.72
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
C8ORF48 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools