JAG1 c.2850del ;(p.D951Tfs*19)

Variant ID: 20-10622174-CA-C

NM_000214.2(JAG1):c.2850del;(p.D951Tfs*19)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Clinical and Genetic Spectra of Inherited Liver Disease in Children in China.

Frontiers In Pediatrics
Fang, Youhong Y; Yu, Jindan J; Lou, Jingan J; Peng, Kerong K; Zhao, Hong H; Chen, Jie J
Publication Date: 2021

Variant appearance in text: JAG1: 2850delT; Asp951Thrfs
PubMed Link: 33763395
Variant Present in the following documents:
  • Main text
  • fped-09-631620.pdf
View BVdb publication page



Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.

Human Mutation
Gilbert, Melissa A MA; Bauer, Robert C RC; Rajagopalan, Ramakrishnan R; Grochowski, Christopher M CM; Chao, Grace G; McEldrew, Deborah D; Nassur, James A JA; Rand, Elizabeth B EB; Krock, Bryan L BL; Kamath, Binita M BM; Krantz, Ian D ID; Piccoli, David A DA; Loomes, Kathleen M KM; Spinner, Nancy B NB
Publication Date: 2019-12

Variant appearance in text: JAG1: 2850del; Asp951Thrfs*19
PubMed Link: 31343788
Variant Present in the following documents:
  • Main text
  • HUMU-40-2197.pdf
View BVdb publication page