KCNQ1 c.1393+23631G>A

Variant ID: 11-2633715-G-A

NM_000218.2(KCNQ1):c.1393+23631G>A

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs7942590
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Valente, Federica Maria FM; Sparago, Angela A; Freschi, Andrea A; Hill-Harfe, Katherine K; Maas, Saskia M SM; Frints, Suzanna Gerarda Maria SGM; Alders, Marielle M; Pignata, Laura L; Franzese, Monica M; Angelini, Claudia C; Carli, Diana D; Mussa, Alessandro A; Gazzin, Andrea A; Gabbarini, Fulvio F; Acurzio, Basilia B; Ferrero, Giovanni Battista GB; Bliek, Jet J; Williams, Charles A CA; Riccio, Andrea A; Cerrato, Flavia F
Publication Date: 2019-08

Variant appearance in text: rs7942590
PubMed Link: 30635621
Variant Present in the following documents:
  • Main text
  • 41436_2018_Article_416.pdf
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: rs7942590
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page