CELSR2 c.19G>A ;(p.G7S)

Variant ID: 1-109792720-G-A

NM_001408.2(CELSR2):c.19G>A;(p.G7S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Human gastric cancer modelling using organoids.

Gut
Seidlitz, Therese T; Merker, Sebastian R SR; Rothe, Alexander A; Zakrzewski, Falk F; von Neubeck, Cläre C; Grützmann, Konrad K; Sommer, Ulrich U; Schweitzer, Christine C; Schölch, Sebastian S; Uhlemann, Heike H; Gaebler, Anne-Marlene AM; Werner, Kristin K; Krause, Mechthild M; Baretton, Gustavo B GB; Welsch, Thilo T; Koo, Bon-Kyoung BK; Aust, Daniela E DE; Klink, Barbara B; Weitz, Jürgen J; Stange, Daniel E DE
Publication Date: 2019-02

Variant appearance in text: CELSR2: 19G>A; Gly7Ser
PubMed Link: 29703791
Variant Present in the following documents:
  • gutjnl-2017-314549supp010.xlsx, sheet 3
View BVdb publication page



A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly.

Clinical Genetics
Ishida, M M; Cullup, T T; Boustred, C C; James, C C; Docker, J J; English, C C; , ; Lench, N N; Copp, A J AJ; Moore, G E GE; Greene, N D E NDE; Stanier, P P
Publication Date: 2018-04

Variant appearance in text: CELSR2: 19G>A; Gly7Arg
PubMed Link: 29205322
Variant Present in the following documents:
  • CGE-93-870-s003.pdf
View BVdb publication page