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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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