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CFTR c.1456G>T ;(p.G486*)
Variant ID: 7-117199581-G-T
NM_000492.3(
CFTR
):c.1456G>T;(p.G486*)
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:
Genetic spectrum of Chinese children with cystic fibrosis: comprehensive data analysis from the main referral centre in China.
Journal Of Medical Genetics
Shen, Yuelin Y; Tang, Xiaolei X; Chen, Qionghua Q; Xu, Hui H; Liu, Hui H; Liu, Jinrong J; Yang, Haiming H; Li, Huimin H; Zhao, Shunying S
Publication Date: 2022-07-20
Variant appearance in text: CFTR: 1456G>T; Gly486X
PubMed Link:
35858753
Variant Present in the following documents:
jmg-2022-108501supp001.pdf
View BVdb publication page
[Clinical characteristics and gene variants of patients with infantile intrahepatic cholestasis].
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal Of Contemporary Pediatrics
Wang, Mei-Juan MJ; Zhong, Xue-Mei XM; Ma, Xin X; Ning, Hui-Juan HJ; Zhu, Dan D; Gong, You-Zhe YZ; Jin, Meng M
Publication Date: 2021-01
Variant appearance in text: CFTR: 1456G>T; G486X
PubMed Link:
33476544
Variant Present in the following documents:
Main text
View BVdb publication page