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CFTR c.1369G>C ;(p.A457P)
Variant ID: 7-117188854-G-C
NM_000492.3(
CFTR
):c.1369G>C;(p.A457P)
This variant was identified in 5 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: 1369G>C; Ala457Pro
PubMed Link:
35858753
Variant Present in the following documents:
jmg-2022-108501supp001.pdf
View BVdb publication page
A review of cystic fibrosis: Basic and clinical aspects.
Animal Models And Experimental Medicine
Chen, Qionghua Q; Shen, Yuelin Y; Zheng, Jingyang J
Publication Date: 2021-09
Variant appearance in text: CFTR: 1369G>C
PubMed Link:
34557648
Variant Present in the following documents:
Main text
View BVdb publication page
A review of cystic fibrosis: Basic and clinical aspects.
Animal Models And Experimental Medicine
Chen, Qionghua Q; Shen, Yuelin Y; Zheng, Jingyang J
Publication Date: 2021-09
Variant appearance in text: CFTR: 1369G>C
PubMed Link:
34557648
Variant Present in the following documents:
Main text
View BVdb publication page
The Creatine Transporter Unfolded: A Knotty Premise in the Cerebral Creatine Deficiency Syndrome.
Frontiers In Synaptic Neuroscience
Farr, Clemens V CV; El-Kasaby, Ali A; Freissmuth, Michael M; Sucic, Sonja S
Publication Date: 2020
Variant appearance in text: CFTR: A457P
PubMed Link:
33192443
Variant Present in the following documents:
Main text
View BVdb publication page
How to rescue misfolded SERT, DAT and NET: targeting conformational intermediates with atypical inhibitors and partial releasers.
Biochemical Society Transactions
Bhat, Shreyas S; Newman, Amy Hauck AH; Freissmuth, Michael M
Publication Date: 2019-06-28
Variant appearance in text: CFTR: A457P
PubMed Link:
31064865
Variant Present in the following documents:
Main text
View BVdb publication page
The Novel CFTR Mutation A457P in a Male with a Delayed Diagnosis of Cystic Fibrosis.
Case Reports In Medicine
Cole, Kate H KH; Sosnay, Patrick R PR; Yarmus, Lonny B LB; Zuckerman, Jonathan B JB
Publication Date: 2011
Variant appearance in text: CFTR: 1369G>C; Ala457Pro
PubMed Link:
22194755
Variant Present in the following documents:
Main text
CRIM2011-903910.pdf
View BVdb publication page