CFTR c.444T>G ;(p.I148M)

Variant ID: 7-117171123-T-G

NM_000492.3(CFTR):c.444T>G;(p.I148M)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


SnRNA-Seq of Pancreas Revealed the Dysfunction of Endocrine and Exocrine Cells in Transgenic Pigs with Prediabetes.

International Journal Of Molecular Sciences
Peng, Huanqi H; Zhang, Kaiyi K; Miao, Jiakun J; Yang, Yu Y; Xu, Shuang S; Wu, Tianwen T; Tao, Cong C; Wang, Yanfang Y; Yang, Shulin S
Publication Date: 2023-04-22

Variant appearance in text: CFTR: I148M
PubMed Link: 37175407
Variant Present in the following documents:
  • Main text
  • ijms-24-07701.pdf
View BVdb publication page



Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Human Genetics
Cooper, David N DN; Krawczak, Michael M; Polychronakos, Constantin C; Tyler-Smith, Chris C; Kehrer-Sawatzki, Hildegard H
Publication Date: 2013-10

Variant appearance in text: CFTR: Ile148Met
PubMed Link: 23820649
Variant Present in the following documents:
  • Main text
  • 439_2013_Article_1331.pdf
View BVdb publication page