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CFTR c.3275A>G ;(p.Y1092C)
Variant ID: 7-117251770-A-G
NM_000492.3(
CFTR
):c.3275A>G;(p.Y1092C)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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: rs764434414
PubMed Link:
34541464
Variant Present in the following documents:
cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page
The true panel of cystic fibrosis mutations in the Sicilian population.
Bmc Medical Genetics
Chamayou, Sandrine S; Sicali, Maria M; Lombardo, Debora D; Maglia, Elena E; Liprino, Annalisa A; Cardea, Clementina C; Fichera, Michele M; Venti, Ermanno E; Guglielmino, Antonino A
Publication Date: 2020-05-01
Variant appearance in text: CFTR: Y1092C
PubMed Link:
32357917
Variant Present in the following documents:
Main text
12881_2020_Article_958.pdf
View BVdb publication page
Factors influencing readthrough therapy for frequent cystic fibrosis premature termination codons.
Erj Open Research
Pranke, Iwona I; Bidou, Laure L; Martin, Natacha N; Blanchet, Sandra S; Hatton, Aurélie A; Karri, Sabrina S; Cornu, David D; Costes, Bruno B; Chevalier, Benoit B; Tondelier, Danielle D; Girodon, Emmanuelle E; Coupet, Matthieu M; Edelman, Aleksander A; Fanen, Pascale P; Namy, Olivier O; Sermet-Gaudelus, Isabelle I; Hinzpeter, Alexandre A
Publication Date: 2018-01
Variant appearance in text: CFTR: Tyr1092Cys
PubMed Link:
29497617
Variant Present in the following documents:
00080-2017_supp.pdf
View BVdb publication page