Variant #0000918461 (NC_000023.10:g.(37668945_37670043)_(37672714_?)del, NM_000397.3:c.(1586+1_1587-1)_*2544{0} (CYBB))

Individual ID 00431429
Chromosome X
Allele Maternal (confirmed)
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.(37668945_37670043)_(37672714_?)del
DNA change (hg38) g.(37809692_37810790)_(37813461_?)del
Published as del ex13
ISCN -
DB-ID CYBB_000117
Variant remarks -
Reference PubMed: Royer-Pokor 1986, PubMed: Rae 1998
ClinVar ID -
dbSNP ID -
Origin Germline
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 2023-02-13 16:23:05 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CYBB NM_000397.3 +/. _12i_13_ c.(1586+1_1587-1)_*2544{0} r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000432843 DNA Southern - - CYBB 1 Johan den Dunnen


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