NF1 c.4836-10408T>A

Variant ID: 17-29642430-T-A

NM_001042492.2(NF1):c.4836-10408T>A

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Splicing annotation of endometrial cancer GWAS risk loci reveals potentially causal variants and supports a role for NF1 and SKAP1 as susceptibility genes.

Hgg Advances
Canson, Daffodil M DM; O'Mara, Tracy A TA; Spurdle, Amanda B AB; Glubb, Dylan M DM
Publication Date: 2023-04-13

Variant appearance in text: rs7502556
PubMed Link: 36908940
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
  • mmc2.xlsx, sheet 3
View BVdb publication page



The utility of a type 2 diabetes polygenic score in addition to clinical variables for prediction of type 2 diabetes incidence in birth, youth and adult cohorts in an Indigenous study population.

Diabetologia
Wedekind, Lauren E LE; Mahajan, Anubha A; Hsueh, Wen-Chi WC; Chen, Peng P; Olaiya, Muideen T MT; Kobes, Sayuko S; Sinha, Madhumita M; Baier, Leslie J LJ; Knowler, William C WC; McCarthy, Mark I MI; Hanson, Robert L RL
Publication Date: 2023-03-02

Variant appearance in text: rs7502556
PubMed Link: 36862161
Variant Present in the following documents:
  • 125_2023_5870_MOESM1_ESM.pdf
View BVdb publication page



Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs7502556
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Identification of type 2 diabetes loci in 433,540 East Asian individuals.

Nature
Spracklen, Cassandra N CN; Horikoshi, Momoko M; Kim, Young Jin YJ; Lin, Kuang K; Bragg, Fiona F; Moon, Sanghoon S; Suzuki, Ken K; Tam, Claudia H T CHT; Tabara, Yasuharu Y; Kwak, Soo-Heon SH; Takeuchi, Fumihiko F; Long, Jirong J; Lim, Victor J Y VJY; Chai, Jin-Fang JF; Chen, Chien-Hsiun CH; Nakatochi, Masahiro M; Yao, Jie J; Choi, Hyeok Sun HS; Iyengar, Apoorva K AK; Perrin, Hannah J HJ; Brotman, Sarah M SM; van de Bunt, Martijn M; Gloyn, Anna L AL; Below, Jennifer E JE; Boehnke, Michael M; Bowden, Donald W DW; Chambers, John C JC; Mahajan, Anubha A; McCarthy, Mark I MI; Ng, Maggie C Y MCY; Petty, Lauren E LE; Zhang, Weihua W; Morris, Andrew P AP; Adair, Linda S LS; Akiyama, Masato M; Bian, Zheng Z; Chan, Juliana C N JCN; Chang, Li-Ching LC; Chee, Miao-Li ML; Chen, Yii-Der Ida YI; Chen, Yuan-Tsong YT; Chen, Zhengming Z; Chuang, Lee-Ming LM; Du, Shufa S; Gordon-Larsen, Penny P; Gross, Myron M; Guo, Xiuqing X; Guo, Yu Y; Han, Sohee S; Howard, Annie-Green AG; Huang, Wei W; Hung, Yi-Jen YJ; Hwang, Mi Yeong MY; Hwu, Chii-Min CM; Ichihara, Sahoko S; Isono, Masato M; Jang, Hye-Mi HM; Jiang, Guozhi G; Jonas, Jost B JB; Kamatani, Yoichiro Y; Katsuya, Tomohiro T; Kawaguchi, Takahisa T; Khor, Chiea-Chuen CC; Kohara, Katsuhiko K; Lee, Myung-Shik MS; Lee, Nanette R NR; Li, Liming L; Liu, Jianjun J; Luk, Andrea O AO; Lv, Jun J; Okada, Yukinori Y; Pereira, Mark A MA; Sabanayagam, Charumathi C; Shi, Jinxiu J; Shin, Dong Mun DM; So, Wing Yee WY; Takahashi, Atsushi A; Tomlinson, Brian B; Tsai, Fuu-Jen FJ; van Dam, Rob M RM; Xiang, Yong-Bing YB; Yamamoto, Ken K; Yamauchi, Toshimasa T; Yoon, Kyungheon K; Yu, Canqing C; Yuan, Jian-Min JM; Zhang, Liang L; Zheng, Wei W; Igase, Michiya M; Cho, Yoon Shin YS; Rotter, Jerome I JI; Wang, Ya-Xing YX; Sheu, Wayne H H WHH; Yokota, Mitsuhiro M; Wu, Jer-Yuarn JY; Cheng, Ching-Yu CY; Wong, Tien-Yin TY; Shu, Xiao-Ou XO; Kato, Norihiro N; Park, Kyong-Soo KS; Tai, E-Shyong ES; Matsuda, Fumihiko F; Koh, Woon-Puay WP; Ma, Ronald C W RCW; Maeda, Shiro S; Millwood, Iona Y IY; Lee, Juyoung J; Kadowaki, Takashi T; Walters, Robin G RG; Kim, Bong-Jo BJ; Mohlke, Karen L KL; Sim, Xueling X
Publication Date: 2020-06

Variant appearance in text: rs7502556
PubMed Link: 32499647
Variant Present in the following documents:
  • NIHMS1570876-supplement-1570876_Supp_Tab1-13.xlsx, sheet 9
View BVdb publication page



Phenotypic and Genetic Characterization of Lower LDL Cholesterol and Increased Type 2 Diabetes Risk in the UK Biobank.

Diabetes
Klimentidis, Yann C YC; Arora, Amit A; Newell, Michelle M; Zhou, Jin J; Ordovas, Jose M JM; Renquist, Benjamin J BJ; Wood, Alexis C AC
Publication Date: 2020-10

Variant appearance in text: rs7502556
PubMed Link: 32493714
Variant Present in the following documents:
  • Main text
  • db191134.pdf
View BVdb publication page