CFTR c.1040_1041delinsAA ;(p.R347Q)

Variant ID: 7-117180324-GC-AA

NM_000492.3(CFTR):c.1040_1041delinsAA;(p.R347Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The QChip1 knowledgebase and microarray for precision medicine in Qatar.

Npj Genomic Medicine
Rodriguez-Flores, Juan L JL; Messai-Badji, Radja R; Robay, Amal A; Temanni, Ramzi R; Syed, Najeeb N; Markovic, Monika M; Al-Khayat, Eiman E; Qafoud, Fatima F; Nawaz, Zafar Z; Badii, Ramin R; Al-Sarraj, Yasser Y; Mbarek, Hamdi H; Al-Muftah, Wadha W; Alvi, Muhammad M; Rostami, Mahboubeh R MR; Cruzado, Juan Carlos Martinez JCM; Mezey, Jason G JG; Shakaki, Alya Al AA; Malek, Joel A JA; Greenblatt, Matthew B MB; Fakhro, Khalid A KA; Machaca, Khaled K; Al-Nabet, Ajayeb A; Afifi, Nahla N; Brooks, Andrew A; Ismail, Said I SI; Althani, Asmaa A; Crystal, Ronald G RG
Publication Date: 2022-01-19

Variant appearance in text: CFTR: Arg347Gln
PubMed Link: 35046417
Variant Present in the following documents:
  • Main text
View BVdb publication page



The QChip1 knowledgebase and microarray for precision medicine in Qatar.

Npj Genomic Medicine
Rodriguez-Flores, Juan L JL; Messai-Badji, Radja R; Robay, Amal A; Temanni, Ramzi R; Syed, Najeeb N; Markovic, Monika M; Al-Khayat, Eiman E; Qafoud, Fatima F; Nawaz, Zafar Z; Badii, Ramin R; Al-Sarraj, Yasser Y; Mbarek, Hamdi H; Al-Muftah, Wadha W; Alvi, Muhammad M; Rostami, Mahboubeh R MR; Cruzado, Juan Carlos Martinez JCM; Mezey, Jason G JG; Shakaki, Alya Al AA; Malek, Joel A JA; Greenblatt, Matthew B MB; Fakhro, Khalid A KA; Machaca, Khaled K; Al-Nabet, Ajayeb A; Afifi, Nahla N; Brooks, Andrew A; Ismail, Said I SI; Althani, Asmaa A; Crystal, Ronald G RG
Publication Date: 2022-01-19

Variant appearance in text: CFTR: Arg347Gln
PubMed Link: 35046417
Variant Present in the following documents:
  • Main text
View BVdb publication page



Folding-function relationship of the most common cystic fibrosis-causing CFTR conductance mutants.

Life Science Alliance
van Willigen, Marcel M; Vonk, Annelotte M AM; Yeoh, Hui Ying HY; Kruisselbrink, Evelien E; Kleizen, Bertrand B; van der Ent, Cornelis K CK; Egmond, Maarten R MR; de Jonge, Hugo R HR; Braakman, Ineke I; Beekman, Jeffrey M JM; van der Sluijs, Peter P
Publication Date: 2019-02

Variant appearance in text: CFTR: R347Q
PubMed Link: 30659068
Variant Present in the following documents:
  • Main text
  • LSA-2018-00172.pdf
View BVdb publication page