JAG1 c.794G>T ;(p.C265F)

Variant ID: 20-10633208-C-A

NM_000214.2(JAG1):c.794G>T;(p.C265F)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


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: 794G>T; Cys265Phe
PubMed Link: 31343788
Variant Present in the following documents:
  • Main text
  • HUMU-40-2197-s001.pdf
  • HUMU-40-2197.pdf
View BVdb publication page