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EGF c.2214A>C ;(p.A738=)
Variant ID: 4-110901288-A-C
NM_001963.4(
EGF
):c.2214A>C;(p.A738=)
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: 2214A>C
PubMed Link:
26076142
Variant Present in the following documents:
Main text
View BVdb publication page