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SMIM2-IT1
Chr 13SMIM2 intronic transcript 1
Also known as: C13orf44-IT1
I cannot provide a clinical summary for SMIM2-IT1 as no information about this gene's protein function, associated diseases, or inheritance patterns was provided in the data below the instructions. To write an accurate clinical summary following the specified guidelines, I would need details about what protein this gene encodes, what conditions result from mutations, and the inheritance pattern.
Some data sources returned errors (1)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/SMIM2-IT1?content-type=application/json&expand=1
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
26 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 | — | — | — | — | 26 |
Likely Pathogenic | — | — | — | — | 0 |
VUS | — | — | — | — | 0 |
Likely Benign | — | — | — | — | 0 |
Benign | — | — | — | — | 0 |
| Total | — | 26 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SMIM2-IT1 · 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