• Version
• Download 132
• File Size 483.85 KB
• File Count 1
• Create Date July 22, 2024
• Last Updated July 22, 2024

NTSAD Variant (Mutation) Database

Note: There has been a shift in terminology within the genetics community, as recommended by the American College of Genetics and Genomics. The term "mutation" has now been replaced with "variant" when referencing changes in genes.

This document is meant as a reference for general information, highlighting some of the more prevalent variants and basic disease information. It serves as a reference point for general information regarding these various disorders and their respective variants. If a variant of interest isn’t covered within this document, please reach out and we can help connect you with additional resources. Additionally, information included was current at the time of creation of this document (May, 2024).

Attached Files