Malignant Hyperthermia in Slavonic Cohort: RYR1 Gene Variants and Clinical Details

21.5 KB of supplementary Excel data accompanies a study on Malignant Hyperthermia in a Slavonic cohort. The file contains all detected variants in the RYR1 gene with detailed interpretation based on pathogenicity scores and clinical details. Authored by Martina Klincová and shared under a CC-BY-4.0 license on figshare, it was last updated on May 11, 2026.

Use Cases

• Correlating genetic variants with clinical phenotypes based on the provided clinical details.
• Benchmarking pathogenicity prediction tools like REVEL and metaRNN against expert-curated variant classifications.
• Studying the genetic landscape of Malignant Hyperthermia susceptibility in a specific European (non-Finnish) population cohort.

Strengths

• Includes expert-curated variant interpretations using multiple criteria, including HGMD classifications and pathogenicity scores.
• Provides clinical details (e.g., patient sex) alongside genetic data, enabling phenotype-genotype correlation.

Limitations

• Row count is unknown, which may limit suitability assessment.
• Column-level documentation is absent; field semantics must be inferred after download.
• The dataset is very small at 21.5 KB, indicating limited scope.

Provenance

Source

figshare

Collection Method

Likely generated as supplementary material for a clinical genetics study.

Freshness

Last updated 2026-05-11 04:03:49; freshness should be verified.

Geography

Slavonic cohort; data includes NFE European (non-Finnish) population annotations.