COL1A2 c.595-125A>G

Variant ID: 7-94037034-A-G

NM_000089.3(COL1A2):c.595-125A>G

This variant was identified in 8 publications

View GRCh38 version.




Publications:


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: rs42517
PubMed Link: 36564540
Variant Present in the following documents:
  • 41598_2022_26850_MOESM3_ESM.xlsx, sheet 1
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: rs42517
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.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: rs42517
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: COL1A2: 595-125A>G; rs42517
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
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: rs42517
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: COL1A2: 595-125A>G; rs42517
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
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: rs42517
PubMed Link: 24149131
Variant Present in the following documents:
  • Main text
View BVdb publication page



No association between polymorphisms and haplotypes of COL1A1 and COL1A2 genes and osteoporotic fracture in postmenopausal Chinese women.

Acta Pharmacologica Sinica
Hu, Wei-wei WW; He, Jin-wei JW; Zhang, Hao H; Wang, Chun C; Gu, Jie-mei JM; Yue, Hua H; Ke, Yao-hua YH; Hu, Yun-qiu YQ; Fu, Wen-zhen WZ; Li, Miao M; Liu, Yu-juan YJ; Zhang, Zhen-lin ZL
Publication Date: 2011-07

Variant appearance in text: rs42517
PubMed Link: 21602843
Variant Present in the following documents:
  • Main text
View BVdb publication page