Variant #0000919812 (NC_000023.10:g.(37651313_37652917)_(37672714_?)del, NM_000397.3:c.(337+1_338-1)_*2544{0} (CYBB))

Individual ID 00432698
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.(37651313_37652917)_(37672714_?)del
DNA change (hg38) g.(37792060_37793664)_(37813461_?)del
Published as del ex5-13
ISCN -
DB-ID CYBB_000233
Variant remarks -
Reference PubMed: Zhou 2018
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2023-02-26 12:07:05 +01:00 (CET)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CYBB NM_000397.3 +/. 4i_13_ c.(337+1_338-1)_*2544{0} r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000434140 DNA SEQ;SSCA - - CYBB 1 Johan den Dunnen


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.