COL4A5 c.1834G>A ;(p.G612S)

Variant ID: X-107841986-G-A

NM_033380.2(COL4A5):c.1834G>A;(p.G612S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: COL4A5: 1834G>A
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



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: 1834G>A
PubMed Link: 33633790
Variant Present in the following documents:
  • Main text
  • fgene-12-633003.pdf
View BVdb publication page