NLRP7 c.2333G>A ;(p.W778*)

Variant ID: 19-55445995-C-T

NM_001127255.1(NLRP7):c.2333G>A;(p.W778*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies.

Cancer Gene Therapy
Denisova, Evgeniya E; Westphal, Dana D; Surowy, Harald M HM; Meier, Friedegund F; Hutter, Barbara B; Reifenberger, Julia J; Rütten, Arno A; Schulz, Alexander A; Sergon, Mildred M; Ziemer, Mirjana M; Brors, Benedikt B; Betz, Regina C RC; Redler, Silke S
Publication Date: 2022-06

Variant appearance in text: NLRP7: W778X
PubMed Link: 34045664
Variant Present in the following documents:
  • 41417_2021_347_MOESM4_ESM.xls, sheet 7
View BVdb publication page



Pathogenic variant in NLRP7 (19q13.42) associated with recurrent gestational trophoblastic disease: Data from early embryo development observed during in vitro fertilization.

Clinical And Experimental Reproductive Medicine
Sills, E Scott ES; Obregon-Tito, Alexandra J AJ; Gao, Harry H; McWilliams, Thomas K TK; Gordon, Anthony T AT; Adams, Catharine A CA; Slim, Rima R
Publication Date: 2017-03

Variant appearance in text: NLRP7: W778X
PubMed Link: 28428943
Variant Present in the following documents:
  • cerm-44-40.pdf
View BVdb publication page



Genetics and Epigenetics of Recurrent Hydatidiform Moles: Basic Science and Genetic Counselling.

Current Obstetrics And Gynecology Reports
Nguyen, Ngoc Minh Phuong NM; Slim, Rima R
Publication Date: 2014

Variant appearance in text: NLRP7: W778X
PubMed Link: 24533231
Variant Present in the following documents:
  • 13669_2013_Article_76.pdf
View BVdb publication page