TG c.2162G>C ;(p.G721A)

Variant ID: 8-133899779-G-C

NM_003235.4(TG):c.2162G>C;(p.G721A)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology
Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G
Publication Date: 2023-04-22

Variant appearance in text: TG: 2162G>C
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09

Variant appearance in text: TG: 2162G>C
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Patient-derived cells from recurrent tumors that model the evolution of IDH-mutant glioma.

Neuro-Oncology Advances
Jones, Lindsey E LE; Hilz, Stephanie S; Grimmer, Matthew R MR; Mazor, Tali T; Najac, Chloé C; Mukherjee, Joydeep J; McKinney, Andrew A; Chow, Tracy T; Pieper, Russell O RO; Ronen, Sabrina M SM; Chang, Susan M SM; Phillips, Joanna J JJ; Costello, Joseph F JF
Publication Date: 2020

Variant appearance in text: TG: G721A
PubMed Link: 32904945
Variant Present in the following documents:
  • vdaa088_suppl_supplementary_tables.xlsx, sheet 3
View BVdb publication page



Characterization of clinical and genetic risk factors associated with dyslipidemia after kidney transplantation.

Disease Markers
Numakura, Kazuyuki K; Kagaya, Hideaki H; Yamamoto, Ryohei R; Komine, Naoki N; Saito, Mitsuru M; Hiroshi, Tsuruta T; Akihama, Susumu S; Inoue, Takamitsu T; Narita, Shintaro S; Tsuchiya, Norihiko N; Habuchi, Tomonori T; Niioka, Takenori T; Miura, Masatomo M; Satoh, Shigeru S
Publication Date: 2015

Variant appearance in text: TG: G721A
PubMed Link: 25944971
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetic basis of graves' disease.

Current Genomics
Płoski, Rafał R; Szymański, Konrad K; Bednarczuk, Tomasz T
Publication Date: 2011-12

Variant appearance in text: TG: G721A
PubMed Link: 22654555
Variant Present in the following documents:
  • Main text
  • CG-12-542.pdf
View BVdb publication page