F5 c.5788+122T>G

Variant ID: 1-169493953-A-C

NM_000130.4(F5):c.5788+122T>G

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs12131397
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs12131397
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Preterm birth in Caucasians is associated with coagulation and inflammation pathway gene variants.

Plos One
Velez, Digna R DR; Fortunato, Stephen J SJ; Thorsen, Poul P; Lombardi, Salvatore J SJ; Williams, Scott M SM; Menon, Ramkumar R
Publication Date: 2008-09-26

Variant appearance in text: rs12131397
PubMed Link: 18818748
Variant Present in the following documents:
  • Main text
  • pone.0003283.pdf
View BVdb publication page