CFTR c.1382G>A ;(p.G461E)

Variant ID: 7-117188867-G-A

NM_000492.3(CFTR):c.1382G>A;(p.G461E)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients.

Genes
Petrova, Nika V NV; Kashirskaya, Nataliya Y NY; Vasilyeva, Tatyana A TA; Kondratyeva, Elena I EI; Zhekaite, Elena K EK; Voronkova, Anna Y AY; Sherman, Victoria D VD; Galkina, Varvara A VA; Ginter, Eugeny K EK; Kutsev, Sergey I SI; Marakhonov, Andrey V AV; Zinchenko, Rena A RA
Publication Date: 2020-05-15

Variant appearance in text: CFTR: 1382G>A
PubMed Link: 32429104
Variant Present in the following documents:
  • Main text
  • genes-11-00554.pdf
View BVdb publication page



Targeted sequencing reveals complex, phenotype-correlated genotypes in cystic fibrosis.

Bmc Medical Genomics
Ivanov, Maxim M; Matsvay, Alina A; Glazova, Olga O; Krasovskiy, Stanislav S; Usacheva, Mariya M; Amelina, Elena E; Chernyak, Aleksandr A; Ivanov, Mikhail M; Musienko, Sergey S; Prodanov, Timofey T; Kovalenko, Sergey S; Baranova, Ancha A; Khafizov, Kamil K
Publication Date: 2018-02-13

Variant appearance in text: CFTR: 1382G>A; G461E
PubMed Link: 29504914
Variant Present in the following documents:
  • Main text
View BVdb publication page



On Burkholderiales order microorganisms and cystic fibrosis in Russia.

Bmc Genomics
Voronina, Olga L OL; Kunda, Marina S MS; Ryzhova, Natalia N NN; Aksenova, Ekaterina I EI; Sharapova, Natalia E NE; Semenov, Andrey N AN; Amelina, Elena L EL; Chuchalin, Alexandr G AG; Gintsburg, Alexandr L AL
Publication Date: 2018-02-09

Variant appearance in text: CFTR: G461E
PubMed Link: 29504898
Variant Present in the following documents:
  • Main text
  • 12864_2018_Article_4472.pdf
View BVdb publication page