NOTCH2 c.2705G>C ;(p.G902A)

Variant ID: 1-120491084-C-G

NM_024408.3(NOTCH2):c.2705G>C;(p.G902A)

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: NOTCH2: 2705G>C
PubMed Link: 31343788
Variant Present in the following documents:
  • HUMU-40-2197-s001.pdf
View BVdb publication page