FGFR2 c.1673-12C>T

Variant ID: 10-123256248-G-A

NM_000141.4(FGFR2):c.1673-12C>T

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation
Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS
Publication Date: 2020-04-01

Variant appearance in text: rs41293763
PubMed Link: 31874108
Variant Present in the following documents:
  • jci-130-132031-s100.xlsx, sheet 1
View BVdb publication page



Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications
Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C
Publication Date: 2019-08-30

Variant appearance in text: rs41293763
PubMed Link: 31470906
Variant Present in the following documents:
  • 40478_2019_793_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

American Journal Of Human Genetics
Kim, Hyung-Goo HG; Ahn, Jang-Won JW; Kurth, Ingo I; Ullmann, Reinhard R; Kim, Hyun-Taek HT; Kulharya, Anita A; Ha, Kyung-Soo KS; Itokawa, Yasuhide Y; Meliciani, Irene I; Wenzel, Wolfgang W; Lee, Deresa D; Rosenberger, Georg G; Ozata, Metin M; Bick, David P DP; Sherins, Richard J RJ; Nagase, Takahiro T; Tekin, Mustafa M; Kim, Soo-Hyun SH; Kim, Cheol-Hee CH; Ropers, Hans-Hilger HH; Gusella, James F JF; Kalscheuer, Vera V; Choi, Cheol Yong CY; Layman, Lawrence C LC
Publication Date: 2010-10-08

Variant appearance in text: rs41293763
PubMed Link: 20887964
Variant Present in the following documents:
  • Main text
View BVdb publication page