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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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