C17ORF100
Chr 17chromosome 17 open reading frame 100
I notice that no information has been provided about the C17ORF100 gene - there are no details about the protein function, associated diseases, inheritance patterns, or constraint metrics. Without this essential information, I cannot write an accurate clinical gene summary following the strict rules you've outlined. Please provide the relevant gene data including protein function, phenotype associations, inheritance pattern, and any available constraint scores so I can create an appropriate 2-3 sentence summary for the pediatric neurogenetics portal.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
26 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 19 |
Likely Pathogenic | — | — | — | — | 1 |
VUS | — | — | — | — | 6 |
Likely Benign | — | — | — | — | 0 |
Benign | — | — | — | — | 0 |
| Total | — | 26 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
C17ORF100 · 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