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LMO7DN-IT1

Chr 13

LMO7DN intronic transcript 1

Also known as: C13orf45-IT1, TCONS_00021569

I cannot provide a clinical summary for LMO7DN-IT1 as no functional or clinical information has been provided for this gene. The data supplied does not include details about protein function, associated diseases, inheritance patterns, or clinical phenotypes necessary to write an accurate clinical summary.

Clinical SummaryLMO7DN-IT1
📋
ClinVar Variants
29 unique Pathogenic / Likely Pathogenic of 29 total submissions
Some data sources returned errors (1)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/LMO7DN-IT1?content-type=application/json&expand=1

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

29 submitted variants in ClinVar

Classification Summary

Pathogenic29
29
Pathogenic

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
29
Likely Pathogenic
0
VUS
0
Likely Benign
0
Benign
0
Total29

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

LMO7DN-IT1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 3 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found