GC c.366C>G ;(p.C122W)

Variant ID: 4-72631256-G-C

NM_000583.3(GC):c.366C>G;(p.C122W)

This variant was identified in 4 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: GC: C122W
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Genomic characterization between strains selected for death-feigning duration for avoiding attack of a beetle.

Scientific Reports
Tanaka, Keisuke K; Sasaki, Ken K; Matsumura, Kentarou K; Yajima, Shunsuke S; Miyatake, Takahisa T
Publication Date: 2021-11-08

Variant appearance in text: GC: 366C>G
PubMed Link: 34750398
Variant Present in the following documents:
  • 41598_2021_987_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model.

Brain Communications
Jurkute, Neringa N; Bertacchi, Michele M; Arno, Gavin G; Tocco, Chiara C; Kim, Ungsoo Samuel US; Kruszewski, Adam M AM; Avery, Robert A RA; Bedoukian, Emma C EC; Han, Jinu J; Ahn, Sung Jun SJ; Pontikos, Nikolas N; Acheson, James J; Davagnanam, Indran I; Bowman, Richard R; Kaliakatsos, Marios M; Gardham, Alice A; Wakeling, Emma E; Oluonye, Ngozi N; Reddy, Maddy Ashwin MA; Clark, Elaine E; Rosser, Elisabeth E; Amati-Bonneau, Patrizia P; Charif, Majida M; Lenaers, Guy G; Meunier, Isabelle I; Defoort, Sabine S; Vincent-Delorme, Catherine C; Robson, Anthony G AG; Holder, Graham E GE; Jeanjean, Luc L; Martinez-Monseny, Antonio A; Vidal-Santacana, Mariona M; Dominici, Chloé C; Gaggioli, Cedric C; Giordano, Nadia N; Caleo, Matteo M; Liu, Grant T GT; , ; Webster, Andrew R AR; Studer, Michèle M; Yu-Wai-Man, Patrick P
Publication Date: 2021

Variant appearance in text: GC: 366C>G
PubMed Link: 34466801
Variant Present in the following documents:
  • fcab162.pdf
View BVdb publication page



Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes.

Journal Of Medical Genetics
Baas, Martijn M; Burger, Elise Bette EB; van den Ouweland, Ans Mw AM; Hovius, Steven Er SE; de Klein, Annelies A; van Nieuwenhoven, Christianne A CA; Galjaard, Robert Jan H RJH
Publication Date: 2021-06

Variant appearance in text: GC: 366C>G
PubMed Link: 32591344
Variant Present in the following documents:
  • jmedgenet-2020-106948supp001.pdf
View BVdb publication page