Screening #0000144661

Individual ID 00143802
Template DNA
Technique arrayCGH;SEQ
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 99 90 2019-07-12 CGDX, mycobacteriosis, atypical, familial, X-linked 2
DYNLT3 dynein, light chain, Tctex-type 3 X p21 1 9 6 2019-07-12 -



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.37642454_(37731114_37731173)del;(37758263_37758322)_37856175dup - - - CYBB_000006 - PubMed: Arai 2012 - - Germline - - - 0 - Johan den Dunnen CYBB, DYNLT3 - - - - - 2i_13_, _1_5_ NM_000397.3:c.142-289_(*1_?)del, NM_006520.2:c.(?_-1)_(*1_?)del - - r.?, r.0 p.?, p.0 - - - - - - - - - - - - - - - - - - -
Legend