COL4A5 c.1933C>T ;(p.Q645*)

Variant ID: X-107842085-C-T

NM_033380.2(COL4A5):c.1933C>T;(p.Q645*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Case Report: Preimplantation Genetic Testing and Pregnancy Outcomes in Women With Alport Syndrome.

Frontiers In Genetics
Shi, Wei-Hui WH; Ye, Mu-Jin MJ; Chen, Song-Chang SC; Zhang, Jun-Yu JY; Chen, Yi-Yao YY; Zhou, Zhi-Yang ZY; Qin, Ning-Xin NX; Zhou, Xuan-You XY; Xu, Nai-Xin NX; Jiang, Zi-Ru ZR; Lin, Jing J; Huang, He-Feng HF; Xu, Chen-Ming CM
Publication Date: 2021

Variant appearance in text: COL4A5: 1933C>T; Gln645*
PubMed Link: 33633790
Variant Present in the following documents:
  • Main text
  • fgene-12-633003.pdf
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: COL4A5: Q645*
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page