C1ORF232
Chr 1chromosome 1 open reading frame 230
I notice that you've provided the gene symbol C1ORF232 but haven't included the supporting data that I need to write an accurate clinical summary. According to the strict rules, I can only use information that you provide below the gene name - such as protein function, associated diseases, inheritance patterns, constraint metrics, or phenotype details. Could you please provide the relevant clinical and functional data for C1ORF232 so I can write an appropriate 2-3 sentence summary for the pediatric neurogenetics portal?
Some data sources returned errors (1)
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
3 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 | — | — | — | — | 2 |
Likely Pathogenic | — | — | — | — | 0 |
VUS | — | — | — | — | 1 |
Likely Benign | — | — | — | — | 0 |
Benign | — | — | — | — | 0 |
| Total | — | 3 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
C1ORF232 · 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