COL1A2 c.3106-76C>T

Variant ID: 7-94056244-C-T

NM_000089.3(COL1A2):c.3106-76C>T

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: rs413826
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness.

Scientific Reports
Zhao, Jing J; Zhang, Siqi S; Jiang, Yuan Y; Liu, Yan Y; Wang, Jiantao J; Zhu, QingWen Q
Publication Date: 2022-12-23

Variant appearance in text: rs413826
PubMed Link: 36564540
Variant Present in the following documents:
  • 41598_2022_26850_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss.

Plos One
Lei, Peiliang P; Zhu, Qingwen Q; Dong, Wenrong W; Zhang, Siqi S; Sun, Yanyan Y; Du, Xitong X; Geng, Meng M; Jiang, Yuan Y
Publication Date: 2022

Variant appearance in text: rs413826
PubMed Link: 36350814
Variant Present in the following documents:
  • pone.0276233.s004.xlsx, sheet 1
View BVdb publication page



A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family.

Bmc Medical Genomics
Li, Qiong Q; Wang, Shujuan S; Liang, Pengfei P; Li, Wei W; Wang, Jian J; Fan, Bei B; Yang, Yang Y; An, Xiaogang X; Chen, Jun J; Zha, Dingjun D
Publication Date: 2022-07-21

Variant appearance in text: rs413826
PubMed Link: 35864542
Variant Present in the following documents:
  • 12920_2022_1315_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: rs413826
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Effect of Citric Acid Cycle Genetic Variants and Their Interactions with Obesity, Physical Activity and Energy Intake on the Risk of Colorectal Cancer: Results from a Nested Case-Control Study in the UK Biobank.

Cancers
Cho, Sooyoung S; Song, Nan N; Choi, Ji-Yeob JY; Shin, Aesun A
Publication Date: 2020-10-12

Variant appearance in text: rs413826
PubMed Link: 33053772
Variant Present in the following documents:
  • Main text
  • cancers-12-02939.pdf
View BVdb publication page



Systematic Review and Meta-Analysis of Candidate Gene Association Studies With Fracture Risk in Physically Active Participants.

Frontiers In Genetics
Ryan-Moore, Edward E; Mavrommatis, Yiannis Y; Waldron, Mark M
Publication Date: 2020

Variant appearance in text: rs413826
PubMed Link: 32612634
Variant Present in the following documents:
  • Main text
  • fgene-11-00551.pdf
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: rs413826
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_7.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: rs413826
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Non-Invasive Prenatal Diagnosis of Lethal Skeletal Dysplasia by Targeted Capture Sequencing of Maternal Plasma.

Plos One
Dan, Shan S; Yuan, Yuan Y; Wang, Yaoshen Y; Chen, Chao C; Gao, Changxin C; Yu, Song S; Liu, Yan Y; Song, Wei W; Asan, ; Zhu, Hongmei H; Yang, Ling L; Deng, Hongmei H; Su, Yue Y; Yi, Xin X
Publication Date: 2016

Variant appearance in text: rs413826
PubMed Link: 27433940
Variant Present in the following documents:
  • pone.0159355.s015.xls, sheet 2
  • pone.0159355.s017.xls, sheet 4
  • pone.0159355.s013.xlsx, sheet 4
  • pone.0159355.s015.xls, sheet 3
  • pone.0159355.s016.xls, sheet 4
  • pone.0159355.s016.xls, sheet 2
  • pone.0159355.s016.xls, sheet 3
  • pone.0159355.s013.xlsx, sheet 2
  • pone.0159355.s017.xls, sheet 3
  • pone.0159355.s015.xls, sheet 4
View BVdb publication page



Candidate gene analysis in israeli soldiers with stress fractures.

Journal Of Sports Science & Medicine
Yanovich, Ran R; Friedman, Eitan E; Milgrom, Roni R; Oberman, Bernice B; Freedman, Laurence L; Moran, Daniel S DS
Publication Date: 2012

Variant appearance in text: rs413826
PubMed Link: 24149131
Variant Present in the following documents:
  • Main text
View BVdb publication page