Variant #0000005681 (NC_000004.11:g.84185354A>T, COQ2(NM_015697.7):c.1264T>A)

Individual ID 00005692
Chromosome 4
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.84185354A>T
Reference Sun Z et al. (2016)
DB-ID COQ2_000022
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner XY Liu
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by XY Liu
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
COQ2 NM_015697.7 ./. 7 c.1264T>A r.(?) p.(*422Lysext*1) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000005708 ? ? COQ2 1 XY Liu