CFTR c.1372G>A ;(p.G458R)

Variant ID: 7-117188857-G-A

NM_000492.3(CFTR):c.1372G>A;(p.G458R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Cell of origin and mutation pattern define three clinically distinct classes of sebaceous carcinoma.

Nature Communications
North, Jeffrey P JP; Golovato, Justin J; Vaske, Charles J CJ; Sanborn, J Zachary JZ; Nguyen, Andrew A; Wu, Wei W; Goode, Benjamin B; Stevers, Meredith M; McMullen, Kevin K; Perez White, Bethany E BE; Collisson, Eric A EA; Bloomer, Michele M; Solomon, David A DA; Benz, Stephen C SC; Cho, Raymond J RJ
Publication Date: 2018-05-14

Variant appearance in text: CFTR: G458R
PubMed Link: 29760388
Variant Present in the following documents:
  • 41467_2018_4008_MOESM3_ESM.xlsx, sheet 25
View BVdb publication page



Clinical assessment incorporating a personal genome.

Lancet (London, England)
Ashley, Euan A EA; Butte, Atul J AJ; Wheeler, Matthew T MT; Chen, Rong R; Klein, Teri E TE; Dewey, Frederick E FE; Dudley, Joel T JT; Ormond, Kelly E KE; Pavlovic, Aleksandra A; Morgan, Alexander A AA; Pushkarev, Dmitry D; Neff, Norma F NF; Hudgins, Louanne L; Gong, Li L; Hodges, Laura M LM; Berlin, Dorit S DS; Thorn, Caroline F CF; Sangkuhl, Katrin K; Hebert, Joan M JM; Woon, Mark M; Sagreiya, Hersh H; Whaley, Ryan R; Knowles, Joshua W JW; Chou, Michael F MF; Thakuria, Joseph V JV; Rosenbaum, Abraham M AM; Zaranek, Alexander Wait AW; Church, George M GM; Greely, Henry T HT; Quake, Stephen R SR; Altman, Russ B RB
Publication Date: 2010-05-01

Variant appearance in text: CFTR: G458R
PubMed Link: 20435227
Variant Present in the following documents:
  • Main text
View BVdb publication page