EFCAB13-DT
Chr 17EFCAB13 divergent transcript
Also known as: THCAT158
Clinical Summary— EFCAB13-DT
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ClinVar Variants
15 Pathogenic / Likely Pathogenic· 68 VUS of 138 total submissions
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
138 submitted variants in ClinVar
Classification Summary
Pathogenic10
Likely Pathogenic5
VUS68
Likely Benign39
Benign13
Conflicting3
10
Pathogenic
5
Likely Pathogenic
68
VUS
39
Likely Benign
13
Benign
3
Conflicting
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 1 | 2 | 7 | 0 | 10 |
Likely Pathogenic | 3 | 1 | 1 | 0 | 5 |
VUS | 3 | 33 | 31 | 1 | 68 |
Likely Benign | 0 | 0 | 14 | 25 | 39 |
Benign | 0 | 0 | 12 | 1 | 13 |
Conflicting | — | 3 | |||
| Total | 7 | 36 | 65 | 27 | 138 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
EFCAB13-DT · 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
Computational identification and clinical validation of a novel risk signature based on coagulation-related lncRNAs for predicting prognosis, immunotherapy response, and chemosensitivity in colorectal cancer patients
Zhang F et al.·Front Immunol
2023Cohort
Identifying prioritization of therapeutic targets for ankylosing spondylitis: a multi-omics Mendelian randomization study
Dai L et al.·J Transl Med
2024
Discovery of GJC1 (Cx45) as a New Gene Underlying Congenital Heart Disease and Arrhythmias
Li YJ et al.·Biology (Basel)
2023
Exploring the Link between Premature Ovarian Insufficiency, Insomnia and Circadian Pathways
Kloster AK et al.·JBRA Assist Reprod
2024
The effect of hypothyroidism on the risk of diabetes and its microvascular complications: a Mendelian randomization study
Fang T et al.·Front Endocrinol (Lausanne)
2023
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