Bibliome.ai browser hg19
Search
About
Stats
FAQ
CFTR c.1392+2119T>A
Variant ID: 7-117190996-T-A
NM_000492.3(
CFTR
):c.1392+2119T>A
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 CFTR gene variants in Japanese children with idiopathic pancreatitis.
Human Genome Variation
Iso, Manami M; Suzuki, Mitsuyoshi M; Yanagi, Kumiko K; Minowa, Kei K; Sakurai, Yumiko Y; Nakano, Satoshi S; Satou, Kazuhito K; Shimizu, Toshiaki T; Kaname, Tadashi T
Publication Date: 2019
Variant appearance in text: rs4148706
PubMed Link:
30992994
Variant Present in the following documents:
Main text
41439_2019_Article_49.pdf
View BVdb publication page
Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.
The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04
Variant appearance in text: rs4148706
PubMed Link:
30214008
Variant Present in the following documents:
NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page