Screening #0000034490

Individual ID 00034423
Template DNA
Technique arrayCGH;arraySNP
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
DMD dystrophin X p21.2 1 17434 5528 2019-07-16 BMD, BMD/DMD, CMD-3B, DMD
GK glycerol kinase X p21.3 1 103 74 2019-07-12 GKD



Variants found

1 entry on 1 page. Showing entry 1.
Legend  

Chr     

Allele     

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     

Effect     

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     

Protein/Legacy     

CodonNr     

Method     

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/Stain     

Protein level     
X Maternal (confirmed) g.(30700000_30765000)_(31121918_31465000)del - - - DMD_040261 658 kb deletion incl. GKD_3'DMD L Medne ASHG 2010 A1669 - - Germline - - - 0 - Johan den Dunnen DMD, GK +/+ - - - - - _79_, -1-21_ NM_004006.2:c.?_(11047-1_*1)del, NM_001205019.1:c.(?_-1)_(*1_?)del - - r.(del?), r.0? p.(del?), p.0? - - - - - - - - - - - - - - - - - - - - - - -
Legend