C17ORF107
Chr 17chromosome 17 open reading frame 107
The protein function of C17ORF107 is not well-characterized. Mutations in this gene cause autosomal recessive developmental delay with variable intellectual disability and behavioral abnormalities. The gene shows low constraint against loss-of-function variants, which is consistent with the recessive inheritance pattern observed in affected individuals.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
586 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 37 | 5 | 23 | 0 | 65 |
Likely Pathogenic | 48 | 25 | 4 | 0 | 77 |
VUS | 1 | 136 | 18 | 4 | 159 |
Likely Benign | 0 | 1 | 131 | 96 | 228 |
Benign | 0 | 1 | 13 | 2 | 16 |
Conflicting | — | 33 | |||
| Total | 86 | 168 | 189 | 102 | 578 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
C17ORF107 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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 →No open access results found
External Resources
Links to major genomics databases and tools