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CFTR c.1540G>A ;(p.E514K)
Variant ID: 7-117199665-G-A
NM_000492.3(
CFTR
):c.1540G>A;(p.E514K)
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:
CFTR heterozygosity in severe asthma with recurrent airway infections: a retrospective review.
Allergy, Asthma, And Clinical Immunology : Official Journal Of The Canadian Society Of Allergy And Clinical Immunology
Priel, Eldar E; Adatia, Adil A; Kjarsgaard, Melanie M; Nair, Parameswaran P
Publication Date: 2022-06-06
Variant appearance in text: CFTR: 1540G>A
PubMed Link:
35668512
Variant Present in the following documents:
Main text
13223_2022_Article_684.pdf
View BVdb publication page
Cystic fibrosis transmembrane conductance regulator (CFTR) gene abnormalities in Indian males with congenital bilateral absence of vas deferens & renal anomalies.
The Indian Journal Of Medical Research
Gajbhiye, Rahul R; Kadam, Kaushiki K; Khole, Aalok A; Gaikwad, Avinash A; Kadam, Seema S; Shah, Rupin R; Kumaraswamy, Rangaswamy R; Khole, Vrinda V
Publication Date: 2016-05
Variant appearance in text: CFTR: 1540G>A
PubMed Link:
27488005
Variant Present in the following documents:
Main text
IJMR-143-616.pdf
View BVdb publication page