Screening #0000052310

Individual ID 00052362
Template DNA
Technique PCR;PCRm;MLPA
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 (confirmed) +/. g.(31525370_31645938)_(31986532_32235089)del g.(31507253_31627821)_(31968415_32216972)del del ex44-55; c.(6438+1_6439-1)_(8217+1_8218-1)del - DMD_014555 - PubMed: Ferreiro 2009, Journal: Ferreiro 2009 - - Germline yes - - 0 - Johan den Dunnen DMD - - - - - 44i_55i NM_004006.2:c.(6382_6538)_(8069_8390+28)del - pathogenic (recessive) r.(del) p.(del) - - - - - - - - - - - - - - - - - - -
Legend