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DMD c.5002G>T ;(p.E1668*)
Variant ID: X-32383160-C-A
NM_004006.2(
DMD
):c.5002G>T;(p.E1668*)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene.
Plos One
Torella, Annalaura A; Zanobio, Mariateresa M; Zeuli, Roberta R; Del Vecchio Blanco, Francesca F; Savarese, Marco M; Giugliano, Teresa T; Garofalo, Arcomaria A; Piluso, Giulio G; Politano, Luisa L; Nigro, Vincenzo V
Publication Date: 2020
Variant appearance in text: DMD: 5002G>T; Glu1668*
PubMed Link:
32813700
Variant Present in the following documents:
Main text
pone.0237803.pdf
View BVdb publication page
Genotypes and Phenotypes of DMD Small Mutations in Chinese Patients With Dystrophinopathies.
Frontiers In Genetics
Wang, Liang L; Xu, Min M; Li, Huan H; He, Ruojie R; Lin, Jinfu J; Zhang, Cheng C; Zhu, Yuling Y
Publication Date: 2019
Variant appearance in text: DMD: 5002G>T; Glu1668Ter
PubMed Link:
30833962
Variant Present in the following documents:
Table_1.xlsx, sheet 1
View BVdb publication page