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.




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