FLJ40194
Chr 17uncharacterized FLJ40194
Clinical Summary— FLJ40194
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ClinVar Variants
5 Pathogenic / Likely Pathogenic· 1 VUS of 6 total submissions
Some data sources returned errors (1)
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
6 submitted variants in ClinVar
Classification Summary
Pathogenic5
VUS1
5
Pathogenic
1
VUS
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 5 |
Likely Pathogenic | — | — | — | — | 0 |
VUS | — | — | — | — | 1 |
Likely Benign | — | — | — | — | 0 |
Benign | — | — | — | — | 0 |
| Total | — | 6 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
FLJ40194 · 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 →Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
Unexpected Actors in Inflammatory Bowel Disease Revealed by Machine Learning from Whole-Blood Transcriptomic Data
Nowak JK et al.·Genes (Basel)
2022
Identification of Gender-Specific Molecular Differences in Glioblastoma (GBM) and Low-Grade Glioma (LGG) by the Analysis of Large Transcriptomic and Epigenomic Datasets
Khan MT et al.·Front Oncol
2021
Identification of candidate DNA methylation biomarkers related to Alzheimer's disease risk by integrating genome and blood methylome data
Sun Y et al.·Transl Psychiatry
2023
Discovery of GJC1 (Cx45) as a New Gene Underlying Congenital Heart Disease and Arrhythmias
Li YJ et al.·Biology (Basel)
2023
Known susceptibility SNPs for sporadic prostate cancer show a similar association with "hereditary" prostate cancer
Cremers RG et al.·Prostate
2015
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
No open access results found
Top 5 resultsSearch Europe PMC ↗
External Resources
Links to major genomics databases and tools