Annotation

Position
chr4 : 84206004
Genotype
A/A
Gene

HGVS DNA code
NM_015697:c.64A>T
HGVS protein code
p.R22X
Link
OMIM-ID
MutationTaster

Author:
petkraw  
Text:
Hi, I am homozygous for this mutation (COQ2:NM_015697:exon1:c.64A>T:p.R22X). Please contact me if you have a patient that is also homozygous. I wanna know if such a person has a Q10 deficiency and whether he/she is positive for migraine, fibromyalgia, proteinuria
Created at February 27, 2013 14:32, Last update August 22, 2013 14:29
Voting
Clinical significance
Uncertain
Votes
StarsClinical significance
50 votes
40 votes
33 votes
20 votes
10 votes

Comments

petkraw  
March 14, 2013 17:51
ok, we got fibroblasts of the patient. We will test which transcripts are expressed and Michio Hirano will check for a Q10 deficiency. I will keep you updated,...
dmitri  
March 01, 2013 17:31
Looking at transcriptome data of healthy controls, NM_015697 does not seem to be the main transcript. Maybe this is exon is not translated at all?
smundlos  
March 01, 2013 17:28
First, make sure that this is the main transcript. Consider also alternative start codons and stop codon read through, this nonsense mutation seems to be in the first exon,...

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