Variant #0000002379 (NC_000004.11:g.84200187G>A, COQ2(NM_015697.7):c.484C>T)

Individual ID 00002379
Chromosome 4
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.84200187G>A
Reference Chen YP1, Zhao B1, Cao B1, Song W1, Guo X1, Wei QQ1, Yang Y2, Yuan LX3, Shang HF4.(2015)
DB-ID COQ2_000015
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang
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 ./. 2 c.484C>T r.(?) p.(Leu162Phe) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000002379 ? ? COQ2 1 Y Yang