NOTCH1 c.598G>C ;(p.G200R)

Variant ID: 9-139417446-C-G

NM_017617.3(NOTCH1):c.598G>C;(p.G200R)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions.

Heart (British Cardiac Society)
Debiec, Radoslaw Marek RM; Hamby, Stephen E SE; Jones, Peter D PD; Safwan, Kassem K; Sosin, Michael M; Hetherington, Simon Lee SL; Sprigings, David D; Sharman, David D; Lee, Kelvin K; Salahshouri, Pegah P; Wheeldon, Nigel N; Chukwuemeka, Andrew A; Boutziouka, Vasiliki V; Elamin, Mohamed M; Coolman, Sue S; Asiani, Manish M; Kharodia, Shireen S; Skinner, Gregory J GJ; Samani, Nilesh J NJ; Webb, Tom R TR; Bolger, Aidan P AP
Publication Date: 2022-06-24

Variant appearance in text: NOTCH1: 598G>C; Gly200Arg
PubMed Link: 35288444
Variant Present in the following documents:
  • heartjnl-2021-320428supp001.pdf
View BVdb publication page



Another Notch in the Genetic Puzzle of Tetralogy of Fallot.

Circulation Research
Matos-Nieves, Adrianna A; Yasuhara, Jun J; Garg, Vidu V
Publication Date: 2019-02-15

Variant appearance in text: NOTCH1: G200R
PubMed Link: 30763217
Variant Present in the following documents:
  • Main text
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: G200R
PubMed Link: 30582441
Variant Present in the following documents:
  • Main text
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: NOTCH1: G200R
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
View BVdb publication page