863 Rett Syndrome Genetic Variants Integrated from Multiple Databases

Maastricht University researcher Friederike Ehrhart integrated 10,968 MECP2 gene variants from genotype-phenotype databases. The dataset includes 863 unique confirmed Rett syndrome causing and 209 unique confirmed benign variants. This integrated data was used to compare pathogenicity prediction tools and identify ambiguous variants.

Use Cases

• Compare pathogenicity prediction tools based on integrated variant annotations.
• Analyze protein consequences of genetic mutations based on variant data.
• Identify ambiguous variants annotated as both disease-causing and benign.

Strengths

• Integrated 10,968 MECP2 variants from multiple sources.
• Contains 863 unique confirmed Rett syndrome causing variants.
• Includes 209 unique confirmed benign variants for comparison.

Limitations

• Column-level documentation is absent; field semantics must be inferred after download.
• Last update date is unknown; freshness unverified.
• Row count is unknown, which may limit suitability assessment.

Provenance

Source

Maastricht University

Collection Method

Integration of genotype-phenotype data from multiple databases to make it FAIR (Findable, Accessible, Interoperable, Reusable).