TG c.991dup ;(p.Q331Pfs*30)

Variant ID: 8-133895158-G-GC

NM_003235.4(TG):c.991dup;(p.Q331Pfs*30)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Rare variant aggregation in 148,508 exomes identifies genes associated with proxy dementia.

Scientific Reports
Wightman, Douglas P DP; Savage, Jeanne E JE; de Leeuw, Christiaan A CA; Jansen, Iris E IE; Posthuma, Danielle D
Publication Date: 2023-02-07

Variant appearance in text: TG: 991dupC
PubMed Link: 36750708
Variant Present in the following documents:
  • 41598_2023_29108_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



Haplotype-resolved de novo assembly of the Vero cell line genome.

Npj Vaccines
Sène, Marie-Angélique MA; Kiesslich, Sascha S; Djambazian, Haig H; Ragoussis, Jiannis J; Xia, Yu Y; Kamen, Amine A AA
Publication Date: 2021-08-20

Variant appearance in text: TG: 990dupC
PubMed Link: 34417462
Variant Present in the following documents:
  • 41541_2021_358_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Children with 5'-end NF1 gene mutations are more likely to have glioma.

Neurology. Genetics
Anastasaki, Corina C; Morris, Stephanie M SM; Gao, Feng F; Gutmann, David H DH
Publication Date: 2017-10

Variant appearance in text: TG: 989insC
PubMed Link: 28955729
Variant Present in the following documents:
  • supp_3.5.e192_NG_2017_005934R1_Supplementary_Data.pdf
View BVdb publication page