CFTR c.3277C>A ;(p.L1093M)

Variant ID: 7-117251772-C-A

NM_000492.3(CFTR):c.3277C>A;(p.L1093M)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The suitability of matrix assisted laser desorption/ionization time of flight mass spectrometry in a laboratory developed test using cystic fibrosis carrier screening as a model.

The Journal Of Molecular Diagnostics : Jmd
Farkas, Daniel H DH; Miltgen, Nicholas E NE; Stoerker, Jay J; van den Boom, Dirk D; Highsmith, W Edward WE; Cagasan, Lesley L; McCullough, Ron R; Mueller, Reinhold R; Tang, Lin L; Tynan, John J; Tate, Courtney C; Bombard, Allan A
Publication Date: 2010-09

Variant appearance in text: CFTR: 3277C>A
PubMed Link: 20616359
Variant Present in the following documents:
  • Main text
View BVdb publication page



Development of genomic reference materials for cystic fibrosis genetic testing.

The Journal Of Molecular Diagnostics : Jmd
Pratt, Victoria M VM; Caggana, Michele M; Bridges, Christina C; Buller, Arlene M AM; DiAntonio, Lisa L; Highsmith, W Edward WE; Holtegaard, Leonard M LM; Muralidharan, Kasinathan K; Rohlfs, Elizabeth M EM; Tarleton, Jack J; Toji, Lorraine L; Barker, Shannon D SD; Kalman, Lisa V LV
Publication Date: 2009-05

Variant appearance in text: CFTR: 3277C>A
PubMed Link: 19359498
Variant Present in the following documents:
  • Main text
View BVdb publication page