HR c.910T>C ;(p.Y304H)

Variant ID: 8-21985045-A-G

NM_005144.4(HR):c.910T>C;(p.Y304H)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


An atlas of mitochondrial DNA genotype-phenotype associations in the UK Biobank.

Nature Genetics
Yonova-Doing, Ekaterina E; Calabrese, Claudia C; Gomez-Duran, Aurora A; Schon, Katherine K; Wei, Wei W; Karthikeyan, Savita S; Chinnery, Patrick F PF; Howson, Joanna M M JMM
Publication Date: 2021-07

Variant appearance in text: HR: Y304H
PubMed Link: 34002094
Variant Present in the following documents:
  • EMS121898.pdf
View BVdb publication page



An atlas of mitochondrial DNA genotype-phenotype associations in the UK Biobank.

Nature Genetics
Yonova-Doing, Ekaterina E; Calabrese, Claudia C; Gomez-Duran, Aurora A; Schon, Katherine K; Wei, Wei W; Karthikeyan, Savita S; Chinnery, Patrick F PF; Howson, Joanna M M JMM
Publication Date: 2021-07

Variant appearance in text: HR: Y304H
PubMed Link: 34002094
Variant Present in the following documents:
  • EMS121898.pdf
View BVdb publication page



Mitochondrial genome variation and prostate cancer: a review of the mutational landscape and application to clinical management.

Oncotarget
Kalsbeek, Anton M F AMF; Chan, Eva K F EKF; Corcoran, Niall M NM; Hovens, Christopher M CM; Hayes, Vanessa M VM
Publication Date: 2017-09-19

Variant appearance in text: HR: Y304H
PubMed Link: 29050365
Variant Present in the following documents:
  • Main text
View BVdb publication page