CFTR c.463G>T ;(p.A155S)

Variant ID: 7-117171142-G-T

NM_000492.3(CFTR):c.463G>T;(p.A155S)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.

Genome Medicine
Arts, Peer P; Simons, Annet A; AlZahrani, Mofareh S MS; Yilmaz, Elanur E; AlIdrissi, Eman E; van Aerde, Koen J KJ; Alenezi, Njood N; AlGhamdi, Hamza A HA; AlJubab, Hadeel A HA; Al-Hussaini, Abdulrahman A AA; AlManjomi, Fahad F; Alsaad, Alaa B AB; Alsaleem, Badr B; Andijani, Abdulrahman A AA; Asery, Ali A; Ballourah, Walid W; Bleeker-Rovers, Chantal P CP; van Deuren, Marcel M; van der Flier, Michiel M; Gerkes, Erica H EH; Gilissen, Christian C; Habazi, Murad K MK; Hehir-Kwa, Jayne Y JY; Henriet, Stefanie S SS; Hoppenreijs, Esther P EP; Hortillosa, Sarah S; Kerkhofs, Chantal H CH; Keski-Filppula, Riikka R; Lelieveld, Stefan H SH; Lone, Khurram K; MacKenzie, Marius A MA; Mensenkamp, Arjen R AR; Moilanen, Jukka J; Nelen, Marcel M; Ten Oever, Jaap J; Potjewijd, Judith J; van Paassen, Pieter P; Schuurs-Hoeijmakers, Janneke H M JHM; Simon, Anna A; Stokowy, Tomasz T; van de Vorst, Maartje M; Vreeburg, Maaike M; Wagner, Anja A; van Well, Gijs T J GTJ; Zafeiropoulou, Dimitra D; Zonneveld-Huijssoon, Evelien E; Veltman, Joris A JA; van Zelst-Stams, Wendy A G WAG; Faqeih, Eissa A EA; van de Veerdonk, Frank L FL; Netea, Mihai G MG; Hoischen, Alexander A
Publication Date: 2019-06-17

Variant appearance in text: CFTR: A155S
PubMed Link: 31203817
Variant Present in the following documents:
  • Main text
  • 13073_2019_Article_649.pdf
View BVdb publication page