Variant #0000003200 (NC_000023.11:g.37780111A>C, NM_000397.4:c.34A>C (CYBB))

Individual ID 00000832
Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.37780111A>C
Published as CYBB
Reference Intan Juliana Abd Hamid et al. (2020)
DB-ID CYBB_000002
dbSNP ID rs797044560
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Noorzalifah Binti Mazuki
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Noorzalifah Binti Mazuki
Date created 2021-08-10 13:01:58 +08:00 (CST)
Date last edited 2022-01-25 09:34:50 +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.34A>C CYBB r.(?) p.(Ile12Leu) ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000949 DNA ? CYBB 1 Noorzalifah Binti Mazuki