CLN5 c.688_690delinsCAA ;(p.D230Q)

Variant ID: 13-77574715-GAC-CAA

NM_006493.2(CLN5):c.688_690delinsCAA;(p.D230Q)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Cln5 represents a new type of cysteine-based S-depalmitoylase linked to neurodegeneration.

Science Advances
Luebben, Anna V AV; Bender, Daniel D; Becker, Stefan S; Crowther, Lisa M LM; Erven, Ilka I; Hofmann, Kay K; Söding, Johannes J; Klemp, Henry H; Bellotti, Cristina C; Stäuble, Andreas A; Qiu, Tian T; Kathayat, Rahul S RS; Dickinson, Bryan C BC; Gärtner, Jutta J; Sheldrick, George M GM; Krätzner, Ralph R; Steinfeld, Robert R
Publication Date: 2022-04-15

Variant appearance in text: CLN5: Asp279Gln
PubMed Link: 35427157
Variant Present in the following documents:
  • sciadv.abj8633.pdf
View BVdb publication page