TG c.1519_1521del ;(p.A507del)

Variant ID: 8-133899136-TGCA-T

NM_003235.4(TG):c.1519_1521del;(p.A507del)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR.

Human Mutation
Nykamp, Keith K; Truty, Rebecca R; Riethmaier, Darlene D; Wilkinson, Julia J; Bristow, Sara L SL; Aguilar, Sienna S; Neitzel, Dana D; Faulkner, Nicole N; Aradhya, Swaroop S
Publication Date: 2021-09

Variant appearance in text: TG: 1519_1521del
PubMed Link: 34196078
Variant Present in the following documents:
  • HUMU-42-1165-s002.xlsx, sheet 1
View BVdb publication page



Evaluating sequence data quality from the Swift Accel-Amplicon CFTR Panel.

Scientific Data
Leung, Marco L ML; Watson, Deborah J DJ; Vaccaro, Courtney N CN; Mafra, Fernanda F; Wenocur, Adam A; Wang, Tiancheng T; Hakonarson, Hakon H; Santani, Avni A
Publication Date: 2020-01-08

Variant appearance in text: TG: 1519_1521del
PubMed Link: 31913291
Variant Present in the following documents:
  • Main text
View BVdb publication page



Applicability and Efficiency of NGS in Routine Diagnosis: In-Depth Performance Analysis of a Complete Workflow for CFTR Mutation Analysis.

Plos One
Pagin, Adrien A; Devos, Aurore A; Figeac, Martin M; Truant, Maryse M; Willoquaux, Christelle C; Broly, Franck F; Lalau, Guy G
Publication Date: 2016

Variant appearance in text: TG: 1519_1521del
PubMed Link: 26900683
Variant Present in the following documents:
  • Main text
  • pone.0149426.pdf
View BVdb publication page