TEK c.3324_3334del ;(p.E1109Lfs*5)

Variant ID: 9-27229174-CTTTATGAGAAG-C

NM_000459.3(TEK):c.3324_3334del;(p.E1109Lfs*5)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Clinical and genetic analyses of patients with lateralized overgrowth.

Bmc Medical Genomics
Kim, Yoon-Myung YM; Lee, Yena Y; Choi, Yunha Y; Choi, In Hee IH; Heo, Sun Hee SH; Choi, Jung Min JM; Do, Hyo-Sang HS; Jang, Ja-Hyun JH; Yum, Mi-Sun MS; Yoo, Han-Wook HW; Lee, Beom Hee BH
Publication Date: 2022-09-30

Variant appearance in text: TEK: 3324_3334del; Glu1109Leufs
PubMed Link: 36175890
Variant Present in the following documents:
  • Main text
  • 12920_2022_Article_1362.pdf
View BVdb publication page



Variable Somatic TIE2 Mutations in Half of Sporadic Venous Malformations.

Molecular Syndromology
Soblet, J J; Limaye, N N; Uebelhoer, M M; Boon, L M LM; Vikkula, M M
Publication Date: 2013-04

Variant appearance in text: TIE2: 3324_3334del
PubMed Link: 23801934
Variant Present in the following documents:
  • Main text
View BVdb publication page