Genomic variant #0000235487

Individual ID 00143802
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.37642454_(37731114_37731173)del;(37758263_37758322)_37856175dup
DNA change (hg38) -
Published as -
ISCN -
DB-ID CYBB_000006
Variant remarks -
Reference PubMed: Arai 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CYBB NM_000397.3 +/. 2i_13_ c.142-289_(*1_?)del r.? p.?
DYNLT3 NM_006520.2 +/. _1_5_ c.(?_-1)_(*1_?)del r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000144661 DNA arrayCGH;SEQ - - CYBB, DYNLT3 1 Johan den Dunnen