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