TG c.1972_1973delinsAC ;(p.C658T)

Variant ID: 8-133899589-TG-AC

NM_003235.4(TG):c.1972_1973delinsAC;(p.C658T)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


ATP9A deficiency causes ADHD and aberrant endosomal recycling via modulating RAB5 and RAB11 activity.

Molecular Psychiatry
Meng, Tian T; Chen, Xiaoting X; He, Zhengjie Z; Huang, Haofeng H; Lin, Shiyin S; Liu, Kunru K; Bai, Guo G; Liu, Hao H; Xu, Mindong M; Zhuang, Haixia H; Zhang, Yunlong Y; Waqas, Ahmed A; Liu, Qian Q; Zhang, Chuan C; Sun, Xiang-Dong XD; Huang, Huansen H; Umair, Muhammad M; Yan, Yousheng Y; Feng, Du D
Publication Date: 2023-01-06

Variant appearance in text: TGN: C658T
PubMed Link: 36604604
Variant Present in the following documents:
  • Main text
  • 41380_2022_Article_1940.pdf
View BVdb publication page



Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization.

Nature Genetics
Cullinane, Andrew R AR; Straatman-Iwanowska, Anna A; Zaucker, Andreas A; Wakabayashi, Yoshiyuki Y; Bruce, Christopher K CK; Luo, Guanmei G; Rahman, Fatimah F; Gürakan, Figen F; Utine, Eda E; Ozkan, Tanju B TB; Denecke, Jonas J; Vukovic, Jurica J; Di Rocco, Maja M; Mandel, Hanna H; Cangul, Hakan H; Matthews, Randolph P RP; Thomas, Steve G SG; Rappoport, Joshua Z JZ; Arias, Irwin M IM; Wolburg, Hartwig H; Knisely, A S AS; Kelly, Deirdre A DA; Müller, Ferenc F; Maher, Eamonn R ER; Gissen, Paul P
Publication Date: 2010-04

Variant appearance in text: TGN: C658T
PubMed Link: 20190753
Variant Present in the following documents:
  • Main text
View BVdb publication page