CFTR c.1132C>T ;(p.Q378*)

Variant ID: 7-117182085-C-T

NM_000492.3(CFTR):c.1132C>T;(p.Q378*)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: CFTR: 1132C>T; Gln378Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals.

Human Mutation
Szeri, Flora F; Miko, Agnes A; Navasiolava, Nastassia N; Kaposi, Ambrus A; Verschuere, Shana S; Molnar, Beatrix B; Li, Qiaoli Q; Terry, Sharon F SF; Boraldi, Federica F; Uitto, Jouni J; van de Wetering, Koen K; Martin, Ludovic L; Quaglino, Daniela D; Vanakker, Olivier M OM; Tory, Kalman K; Aranyi, Tamas T
Publication Date: 2022-11-01

Variant appearance in text: CFTR: 1132C>T
PubMed Link: 36317459
Variant Present in the following documents:
  • HUMU-43-1872.pdf
View BVdb publication page



Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Genome Medicine
Wang, Zishan Z; Fan, Xiao X; Shen, Yufeng Y; Pagadala, Meghana S MS; Signer, Rebecca R; Cygan, Kamil J KJ; Fairbrother, William G WG; Carter, Hannah H; Chung, Wendy K WK; Huang, Kuan-Lin KL
Publication Date: 2021-09-09

Variant appearance in text: CFTR: 1132C>T
PubMed Link: 34503567
Variant Present in the following documents:
  • 13073_2021_964_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



CFTR Mutation Analysis in Western Iran: Identification of Two Novel Mutations.

Journal Of Reproduction & Infertility
Karimi, Nasibeh N; Alibakhshi, Reza R; Almasi, Shekoufeh S
Publication Date: 2018

Variant appearance in text: CFTR: 1132C>T
PubMed Link: 29850441
Variant Present in the following documents:
  • Main text
  • JRI-19-3.pdf
View BVdb publication page



Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR.

Molecular Genetics & Genomic Medicine
Trujillano, Daniel D; Weiss, Maximilian E R ME; Köster, Julia J; Papachristos, Efstathios B EB; Werber, Martin M; Kandaswamy, Krishna Kumar KK; Marais, Anett A; Eichler, Sabrina S; Creed, Jenny J; Baysal, Erol E; Jaber, Iqbal Yousuf IY; Mehaney, Dina Ahmed DA; Farra, Chantal C; Rolfs, Arndt A
Publication Date: 2015-09

Variant appearance in text: CFTR: 1132C>T; Q378*
PubMed Link: 26436105
Variant Present in the following documents:
  • Main text
  • mgg30003-0396.pdf
View BVdb publication page



A haplotype framework for cystic fibrosis mutations in Iran.

The Journal Of Molecular Diagnostics : Jmd
Elahi, Elahe E; Khodadad, Ahmad A; Kupershmidt, Ilya I; Ghasemi, Fereshteh F; Alinasab, Babak B; Naghizadeh, Ramin R; Eason, Robert G RG; Amini, Mahshid M; Esmaili, Mehran M; Esmaeili Dooki, Mohammad R MR; Sanati, Mohammad H MH; Davis, Ronald W RW; Ronaghi, Mostafa M; Thorstenson, Yvonne R YR
Publication Date: 2006-02

Variant appearance in text: CFTR: 1132C>T
PubMed Link: 16436643
Variant Present in the following documents:
  • Main text
View BVdb publication page