Variant #0000003014 (NC_000023.11:g.23936C>T, NM_000397.4:c.676C>T (CYBB))

Individual ID 00000752
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.23936C>T
Published as -
Reference Harvindar Kaur Gill et al.(2013)
DB-ID CYBB_000001
dbSNP ID rs137854592
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-07-04 09:45:39 +08:00 (CST)
Date last edited 2021-08-01 13:19:53 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
CYBB NM_000397.4 +/. - c.676C>T - r.(?) p.(Arg226*) Pathogenic​



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000846 DNA PCR;RT-PCR;SEQ CYBB 1 Nur Aisyah Athirah