CFTR c.2908+1085_2908+1143del

Variant ID: 7-117244921-AGAAGAGTCAGACATGAGCGATGAGGCACAGTGGAAAGAACATGAGCATTGCCTGAGCTC-A

NM_000492.3(CFTR):c.2908+1085_2908+1143del

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Case Report: Japanese Siblings of Cystic Fibrosis With a Novel Large Heterozygous Deletion in the CFTR Gene.

Frontiers In Pediatrics
Kawase, Mayumi M; Ogawa, Masato M; Hoshina, Takayuki T; Kojiro, Masumi M; Nakakuki, Miyuki M; Naruse, Satoru S; Ishiguro, Hiroshi H; Kusuhara, Koichi K
Publication Date: 2021

Variant appearance in text: CFTR: 2908+1085_3367+260del
PubMed Link: 35047466
Variant Present in the following documents:
  • Main text
  • fped-09-800095.pdf
View BVdb publication page



Functional characteristics of L1156F-CFTR associated with alcoholic chronic pancreatitis in Japanese.

American Journal Of Physiology. Gastrointestinal And Liver Physiology
Kondo, Shiho S; Fujiki, Kotoyo K; Ko, Shigeru B H SB; Yamamoto, Akiko A; Nakakuki, Miyuki M; Ito, Yasutomo Y; Shcheynikov, Nikolay N; Kitagawa, Motoji M; Naruse, Satoru S; Ishiguro, Hiroshi H
Publication Date: 2015-08-15

Variant appearance in text: CFTR: 2908+1085_3367+260del
PubMed Link: 26089335
Variant Present in the following documents:
  • Main text
View BVdb publication page