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CFTR c.3292T>A ;(p.W1098R)
Variant ID: 7-117251787-T-A
NM_000492.3(
CFTR
):c.3292T>A;(p.W1098R)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
GESPA: classifying nsSNPs to predict disease association.
Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25
Variant appearance in text: CFTR: W1098R
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page
The chemical chaperone CFcor-325 repairs folding defects in the transmembrane domains of CFTR-processing mutants.
The Biochemical Journal
Loo, Tip W TW; Bartlett, M Claire MC; Wang, Ying Y; Clarke, David M DM
Publication Date: 2006-05-01
Variant appearance in text: CFTR: W1098R
PubMed Link:
16417523
Variant Present in the following documents:
Main text
View BVdb publication page
Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations.
The Journal Of Molecular Diagnostics : Jmd
Schrijver, Iris I; Oitmaa, Eneli E; Metspalu, Andres A; Gardner, Phyllis P
Publication Date: 2005-08
Variant appearance in text: CFTR: W1098R
PubMed Link:
16049310
Variant Present in the following documents:
Main text
View BVdb publication page