Screening #0000034489

Individual ID 00034422
Template DNA
Technique PCRm;Southern;PFGE
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 18417 5603 2019-09-16 BMD, BMD/DMD, CMD-3B, DMD



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 (inferred) +/+ g.(?_31138512)_(33229611_?)del g.(?_31120395)_(33211494_?)del c.-244_*2691[0] - DMD_010079 del ~4 Mb (L1+, J66-H1-, 754-, cX54+) PubMed: Chelly 1988, UMD 727 database - - Germline - - - 0 - Johan den Dunnen DMD - - - - - _0_79_ NM_004006.2:c.-244_(*1524_?)del - pathogenic (recessive) r.0? p.0? - - - - - - - - - - - - - - - - - - -
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