GC c.1336_1338delinsAAC ;(p.S446N)

Variant ID: 4-72618292-TGA-GTT

NM_000583.3(GC):c.1336_1338delinsAAC;(p.S446N)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Comprehensive targeted super-deep next generation sequencing enhances differential diagnosis of solitary pulmonary nodules.

Journal Of Thoracic Disease
Ye, Mingzhi M; Li, Shiyong S; Huang, Weizhe W; Wang, Chunli C; Liu, Liping L; Liu, Jun J; Liu, Jilong J; Pan, Hui H; Deng, Qiuhua Q; Tang, Hailing H; Jiang, Long L; Huang, Weizhe W; Chen, Xi X; Shao, Di D; Peng, Zhiyu Z; Wu, Renhua R; Zhong, Jing J; Wang, Zhe Z; Zhang, Xiaoping X; Kristiansen, Karsten K; Wang, Jian J; Yin, Ye Y; Mao, Mao M; He, Jianxing J; Liang, Wenhua W
Publication Date: 2018-04

Variant appearance in text: GC: Ser446Asn
PubMed Link: 29780628
Variant Present in the following documents:
  • Main text
View BVdb publication page



Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience
Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA
Publication Date: 2016-11

Variant appearance in text: GC: Ser446Asn
PubMed Link: 27694994
Variant Present in the following documents:
  • NIHMS815183-supplement-supp_table3.xlsx, sheet 1
View BVdb publication page