NOTCH1 c.3966_3972del ;(p.C1322Wfs*121)

Variant ID: 9-139401020-CCACGGCG-C

NM_017617.3(NOTCH1):c.3966_3972del;(p.C1322Wfs*121)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic insights into non-syndromic Tetralogy of Fallot.

Frontiers In Physiology
Althali, Nouf J NJ; Hentges, Kathryn E KE
Publication Date: 2022

Variant appearance in text: NOTCH1: C1322fsX121
PubMed Link: 36277185
Variant Present in the following documents:
  • Main text
  • fphys-13-1012665.pdf
View BVdb publication page



Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot.

Circulation Research
Page, Donna J DJ; Miossec, Matthieu J MJ; Williams, Simon G SG; Monaghan, Richard M RM; Fotiou, Elisavet E; Cordell, Heather J HJ; Sutcliffe, Louise L; Topf, Ana A; Bourgey, Mathieu M; Bourque, Guillaume G; Eveleigh, Robert R; Dunwoodie, Sally L SL; Winlaw, David S DS; Bhattacharya, Shoumo S; Breckpot, Jeroen J; Devriendt, Koenraad K; Gewillig, Marc M; Brook, J David JD; Setchfield, Kerry J KJ; Bu'Lock, Frances A FA; O'Sullivan, John J; Stuart, Graham G; Bezzina, Connie R CR; Mulder, Barbara J M BJM; Postma, Alex V AV; Bentham, James R JR; Baron, Martin M; Bhaskar, Sanjeev S SS; Black, Graeme C GC; Newman, William G WG; Hentges, Kathryn E KE; Lathrop, G Mark GM; Santibanez-Koref, Mauro M; Keavney, Bernard D BD
Publication Date: 2019-02-15

Variant appearance in text: NOTCH1: C1322fsX121
PubMed Link: 30582441
Variant Present in the following documents:
  • Main text
View BVdb publication page