NOTCH1 c.1869C>G ;(p.N623K)

Variant ID: 9-139409969-G-C

NM_017617.3(NOTCH1):c.1869C>G;(p.N623K)

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: N623K
PubMed Link: 36277185
Variant Present in the following documents:
  • Main text
  • fphys-13-1012665.pdf
View BVdb publication page



Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences.

Frontiers In Genetics
Manshaei, Roozbeh R; Merico, Daniele D; Reuter, Miriam S MS; Engchuan, Worrawat W; Mojarad, Bahareh A BA; Chaturvedi, Rajiv R; Heung, Tracy T; Pellecchia, Giovanna G; Zarrei, Mehdi M; Nalpathamkalam, Thomas T; Khan, Reem R; Okello, John B A JBA; Liston, Eriskay E; Curtis, Meredith M; Yuen, Ryan K C RKC; Marshall, Christian R CR; Jobling, Rebekah K RK; Oechslin, Erwin E; Wald, Rachel M RM; Silversides, Candice K CK; Scherer, Stephen W SW; Kim, Raymond H RH; Bassett, Anne S AS
Publication Date: 2020

Variant appearance in text: NOTCH1: Asn623Lys
PubMed Link: 33110418
Variant Present in the following documents:
  • Main text
  • fgene-11-00957.pdf
View BVdb publication page