EGF c.1281_1282insT ;(p.V428Cfs*3)

Variant ID: 4-110883110-A-AT

NM_001963.4(EGF):c.1281_1282insT;(p.V428Cfs*3)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome.

Plos One
Li, Liting L; Dong, Jibin J; Wang, Xiaohong X; Guo, Hongmei H; Wang, Huijun H; Zhao, Jing J; Qiu, Yiling Y; Abuduxikuer, Kuerbanjiang K; Wang, Jianshe J
Publication Date: 2015

Variant appearance in text: EGF: 1281_1282insT
PubMed Link: 26076142
Variant Present in the following documents:
  • Main text
  • pone.0130355.pdf
View BVdb publication page