HEXD-IT1
Chr 17HEXD intronic transcript 1
Also known as: HEXDC-IT1
Clinical Summary— HEXD-IT1
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ClinVar Variants
21 Pathogenic / Likely Pathogenic· 10 VUS of 32 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
32 submitted variants in ClinVar
Classification Summary
Pathogenic18
Likely Pathogenic3
VUS10
Likely Benign1
18
Pathogenic
3
Likely Pathogenic
10
VUS
1
Likely Benign
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 18 |
Likely Pathogenic | — | — | — | — | 3 |
VUS | — | — | — | — | 10 |
Likely Benign | — | — | — | — | 1 |
Benign | — | — | — | — | 0 |
| Total | — | 32 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
HEXD-IT1 · 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
Functional inference of long non-coding RNAs through exploration of highly conserved regions
Liu Z et al.·Front Genet
2023Functional
Noxa inhibits oncogenesis through ZNF519 in gastric cancer and is suppressed by hsa-miR-200b-3p
Shi J et al.·Sci Rep
2024
Top 2 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