HLX c.773-43G>A

Variant ID: 1-221055463-G-A

NM_021958.3(HLX):c.773-43G>A

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: rs2247213
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
View BVdb publication page



Circulating free testosterone and risk of aggressive prostate cancer: Prospective and Mendelian randomisation analyses in international consortia.

International Journal Of Cancer
Watts, Eleanor L EL; Perez-Cornago, Aurora A; Fensom, Georgina K GK; Smith-Byrne, Karl K; Noor, Urwah U; Andrews, Colm D CD; Gunter, Marc J MJ; Holmes, Michael V MV; Martin, Richard M RM; Tsilidis, Konstantinos K KK; Albanes, Demetrius D; Barricarte, Aurelio A; Bueno-de-Mesquita, Bas B; Chen, Chu C; Cohn, Barbara A BA; Dimou, Niki L NL; Ferrucci, Luigi L; Flicker, Leon L; Freedman, Neal D ND; Giles, Graham G GG; Giovannucci, Edward L EL; Goodman, Gary E GE; Haiman, Christopher A CA; Hankey, Graeme J GJ; Huang, Jiaqi J; Huang, Wen-Yi WY; Hurwitz, Lauren M LM; Kaaks, Rudolf R; Knekt, Paul P; Kubo, Tatsuhiko T; Langseth, Hilde H; Laughlin, Gail G; Le Marchand, Loic L; Luostarinen, Tapio T; MacInnis, Robert J RJ; Mäenpää, Hanna O HO; Männistö, Satu S; Metter, E Jeffrey EJ; Mikami, Kazuya K; Mucci, Lorelei A LA; Olsen, Anja W AW; Ozasa, Kotaro K; Palli, Domenico D; Penney, Kathryn L KL; Platz, Elizabeth A EA; Rissanen, Harri H; Sawada, Norie N; Schenk, Jeannette M JM; Stattin, Pär P; Tamakoshi, Akiko A; Thysell, Elin E; Tsai, Chiaojung Jillian CJ; Tsugane, Shoichiro S; Vatten, Lars L; Weiderpass, Elisabete E; Weinstein, Stephanie J SJ; Wilkens, Lynne R LR; Yeap, Bu B BB; , ; , ; , ; , ; , ; Allen, Naomi E NE; Key, Timothy J TJ; Travis, Ruth C RC
Publication Date: 2022-10-01

Variant appearance in text: rs2247213
PubMed Link: 35579976
Variant Present in the following documents:
  • IJC-151-1033-s001.pdf
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: rs2247213
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Integrative molecular profiling identifies a novel cluster of estrogen receptor-positive breast cancer in very young women.

Cancer Science
Park, Charny C; Yoon, Kyong-Ah KA; Kim, Jihyun J; Park, In Hae IH; Park, Soo Jin SJ; Kim, Min Kyeong MK; Jang, Wooyeong W; Cho, Soo Young SY; Park, Boyoung B; Kong, Sun-Young SY; Lee, Eun Sook ES
Publication Date: 2019-05

Variant appearance in text: rs2247213
PubMed Link: 30811755
Variant Present in the following documents:
  • CAS-110-1760-s002.xlsx, sheet 2
View BVdb publication page



Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports
Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R
Publication Date: 2015-03-16

Variant appearance in text: rs2247213
PubMed Link: 25773295
Variant Present in the following documents:
  • srep09124-s3.xls, sheet 1
View BVdb publication page