Genomic variant #0000235490

Individual ID 00143805
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.(32407730_32407789)_(38122529_38122588)del
DNA change (hg38) -
Published as -
ISCN 46,X,del(X)(p21.1p21.2
DB-ID CYBB_000007 See all 3 reported entries
Variant remarks 5711.4 kb deletion
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




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CYBB NM_000397.3 +/. _1_13_ c.(?_-1)_(*1_?)del - r.0 p.0
DMD NM_004006.2 +/. _0_31i c.(?_-128297)_(4344+1_4345-1)del pathogenic (recessive) r.0? p.?
DYNLT3 NM_006520.2 +/. _1_5_ c.(?_-1)_(*1_?)del - r.0 p.0
XK NM_021083.2 +/. _1_3_ c.(?_-1)_(*1_?)del - r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000144664 DNA arrayCGH - - CYBB 1 Johan den Dunnen