NATD1
Chr 17N-acetyltransferase domain containing 1
Also known as: C17orf103, Gtlf3b
I notice that you've provided the gene symbol NATD1 but no supporting data about the protein function, associated diseases, inheritance pattern, or constraint metrics. According to the strict rules you've outlined, I can only use information that has been provided and cannot add claims not supported by the given data. To write an accurate clinical summary, I would need information about: - What the NATD1 protein does - What disease(s) result from mutations - Inheritance pattern - Additional clinical context (age of onset, affected organ systems, constraint data, etc.) Could you please provide the supporting clinical and functional data for NATD1?
Some data sources returned errors (1)
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NATD1 · 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