CFTR c.1036C>T ;(p.L346=)

Variant ID: 7-117180320-C-T

NM_000492.3(CFTR):c.1036C>T;(p.L346=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)
Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI
Publication Date: 2020

Variant appearance in text: rs575762281
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: CFTR: 1036C>T
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Functional analysis of synonymous substitutions predicted to affect splicing of the CFTR gene.

Journal Of Cystic Fibrosis : Official Journal Of The European Cystic Fibrosis Society
Scott, Alexandra A; Petrykowska, Hanna M HM; Hefferon, Timothy T; Gotea, Valer V; Elnitski, Laura L
Publication Date: 2012-12

Variant appearance in text: CFTR: 1036C>T
PubMed Link: 22591852
Variant Present in the following documents:
  • Main text
View BVdb publication page