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F2 c.214G>C ;(p.E72Q)
Variant ID: 11-46741386-G-C
NM_000506.3(
F2
):c.214G>C;(p.E72Q)
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:
Clinical manifestation and genetic analysis in Chinese early onset X-linked retinoschisis.
Molecular Genetics & Genomic Medicine
Huang, Li L; Sun, Limei L; Wang, Zhirong Z; Chen, Chonglin C; Wang, Panfeng P; Sun, Wenmin W; Luo, Xiaoling X; Ding, Xiaoyan X
Publication Date: 2020-10
Variant appearance in text: F2: 214G>C; Glu72Gln
PubMed Link:
33460243
Variant Present in the following documents:
Main text
View BVdb publication page