Screening #0000144664

Individual ID 00143805
Template DNA
Technique arrayCGH
Tissue -
Remarks -
Variants found? 1
Owner name Johan den Dunnen


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
CYBB cytochrome b-245, beta polypeptide X p21.1 1 100 91 2019-07-12 CGDX, mycobacteriosis, atypical, familial, X-linked 2



Variants found

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
X Maternal (confirmed) +/. g.(32407730_32407789)_(38122529_38122588)del - - 46,X,del(X)(p21.1p21.2 CYBB_000007 5711.4 kb deletion PubMed: Arai 2012 - - Germline - - - 0 - Johan den Dunnen CYBB, DMD, DYNLT3, XK - - - - - _1_13_, _0_31i, _1_5_, _1_3_ NM_000397.3:c.(?_-1)_(*1_?)del, NM_004006.2:c.-244_(4344+1_4345-1)[0], NM_006520.2:c.(?_-1)_(*1_?)del, NM_021083.2:c.(?_-1)_(*1_?)del - pathogenic (recessive), r.0?, r.0 p.?, p.0 - - - - - - - - - - - - - - - - - - -
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