Publication
Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.
Authors not recorded
Hum Mutat2011PMID 21309039stubpubmedProvenance
- Source
- PubMed
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CIVIC-20260908-000001
Abstract
Abstract (excerpt)
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Linked entities
Linked entities (2)
How each link was made (MeSH, dictionary, registry reference, curation…) and whether it has been validated. Candidate links are not counted in entity statistics.
Validated 2
- geneTSC1civic_curation1.00
- variantTSC1 R1062Wcivic_curation1.00
Curated evidence
Evidence citing this paper (1)
civicProvenance
- Source
- CIViC — Clinical Interpretation of Variants in Cancer
- Dataset
- CIViC evidence items
- Version
- civic-2026-09-08
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- expert curation
- License
- CC0 1.0
- PMID
- 21309039
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| TSC1 R1062W1 | ||||||||
| (predisposing) | Tuberous SclerosisUNRESOLVED | Predisposing | D | Supports Uncertain Significance | 3 | accepted | EID1921The authors used a transfection based immunoblot assay to assess the impact of TSC1 (and TSC2) variants. Numerous variants were tested independently across 4 replicates and the mean and s.e.m. were pl… (full text at CIViC) PMID 21309039 · Hoogeveen-Westerveld et al., 2011 · Open in CIViC | civic |