UNC13D: c.2296C>T p.Gln766*
Disclaimer The information on this database is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. The authors are not responsible for neither its use nor misuse. The authors have worked with care in the development of this server, but assume no liability or responsibility for any error, weakness, incompleteness or temporariness of the resource and of the data provided.
Interpreting the variant
Learn more about the variant
|Biological Relevance||Affected functional residues||domain C2 2, domain MHD2|
|Population Allele Frequency||ExAC||-|