HR c.1757G>C ;(p.G586A)

Variant ID: 8-21981320-C-G

NM_005144.4(HR):c.1757G>C;(p.G586A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Mitochondrial DNA mutations in renal disease: an overview.

Pediatric Nephrology (Berlin, Germany)
Govers, Larissa P LP; Toka, Hakan R HR; Hariri, Ali A; Walsh, Stephen B SB; Bockenhauer, Detlef D
Publication Date: 2021-01

Variant appearance in text: HR: G586A
PubMed Link: 31925537
Variant Present in the following documents:
  • 467_2019_Article_4404.pdf
View BVdb publication page



A Targeted, Next-Generation Genetic Sequencing Study on Tetralogy of Fallot, Combined With Cleft Lip and Palate.

The Journal Of Craniofacial Surgery
Liu, Lin L; Bu, Haisong H; Yang, Yifeng Y; Tan, Zhiping Z; Zhang, Fei F; Hu, Shijun S; Zhao, Tianli T
Publication Date: 2017-06

Variant appearance in text: HR: G586A
PubMed Link: 28230599
Variant Present in the following documents:
  • jcrsu-28-e351.pdf
View BVdb publication page



The ATPase activity of Fml1 is essential for its roles in homologous recombination and DNA repair.

Nucleic Acids Research
Nandi, Saikat S; Whitby, Matthew C MC
Publication Date: 2012-10

Variant appearance in text: HR: G586A
PubMed Link: 22844101
Variant Present in the following documents:
  • Main text
  • gks715.pdf
View BVdb publication page