F8 c.5063C>T ;(p.S1688L)

Variant ID: X-154157002-G-A

NM_000132.3(F8):c.5063C>T;(p.S1688L)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis.

Plos One
Pagliari, Maria Teresa MT; Cairo, Andrea A; Boscarino, Marco M; Mancini, Ilaria I; Pappalardo, Emanuela E; Bucciarelli, Paolo P; Martinelli, Ida I; Rosendaal, Frits R FR; Peyvandi, Flora F
Publication Date: 2021

Variant appearance in text: F8: S1688L; rs782235155
PubMed Link: 34662354
Variant Present in the following documents:
  • pone.0258675.s002.pdf
View BVdb publication page



A Fifteen-Gene Classifier to Predict Neoadjuvant Chemotherapy Responses in Patients with Stage IB to IIB Squamous Cervical Cancer.

Advanced Science (Weinheim, Baden-Wurttemberg, Germany)
Tian, Xun X; Wang, Xin X; Cui, Zifeng Z; Liu, Jia J; Huang, Xiaoyuan X; Shi, Caixia C; Zhang, Min M; Liu, Ting T; Du, Xiaofang X; Li, Rui R; Huang, Lei L; Gong, Danni D; Tian, Rui R; Cao, Chen C; Jin, Ping P; Zeng, Zhen Z; Pan, Guangxin G; Xia, Meng M; Zhang, Hongfeng H; Luo, Bo B; Xie, Yonghui Y; Li, Xiaoming X; Li, Tianye T; Wu, Jun J; Zhang, Qinghua Q; Chen, Gang G; Hu, Zheng Z
Publication Date: 2021-05

Variant appearance in text: F8: S1688L
PubMed Link: 34026427
Variant Present in the following documents:
  • ADVS-8-2001978-s004.xlsx, sheet 4
View BVdb publication page



Most factor VIII B domain missense mutations are unlikely to be causative mutations for severe hemophilia A: implications for genotyping.

Journal Of Thrombosis And Haemostasis : Jth
Ogata, K K; Selvaraj, S R SR; Miao, H Z HZ; Pipe, S W SW
Publication Date: 2011-06

Variant appearance in text: FVIII: 5063C>T
PubMed Link: 21645226
Variant Present in the following documents:
  • Main text
View BVdb publication page