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CFTR c.2620-26A>G
Variant ID: 7-117242854-A-G
NM_000492.3(
CFTR
):c.2620-26A>G
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 ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09
Variant appearance in text: CFTR: 2620-26A>G; rs201716473
PubMed Link:
32355288
Variant Present in the following documents:
41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page
Novel, rare and common pathogenic variants in the CFTR gene screened by high-throughput sequencing technology and predicted by in silico tools.
Scientific Reports
Pereira, Stéphanie Villa-Nova SV; Ribeiro, José Dirceu JD; Ribeiro, Antônio Fernando AF; Bertuzzo, Carmen Sílvia CS; Marson, Fernando Augusto Lima FAL
Publication Date: 2019-04-17
Variant appearance in text: CFTR: 2620-26A>G; rs201716473
PubMed Link:
30996306
Variant Present in the following documents:
Main text
41598_2019_Article_42404.pdf
View BVdb publication page