Screening #0000049811

Individual ID 00049890
Template DNA
Technique MIC;PFGE;Southern
Tissue -
Remarks -
Variants found? 2
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 2019-09-13 BMD, BMD/DMD, CMD-3B, DMD



Variants found

2 entries on 1 page. Showing entries 1 - 2.
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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     
3 Unknown ?/. g.[chr3:pter_cen_(113500001_121900000)::chrX:pter_(31429968_31670104)inv] - - t(X;3)(p21.2;q13.3) chr3_000746 translocation PubMed: Meitinger 1988, Journal: Meitinger 1988 - - Unknown - - - 0 - Johan den Dunnen - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
X Unknown +/+ g.[chr3:(113500001_121900000)_qterinv::chrX:(31429968_31670104)_cen_qterinv] - - t(X;3)(p21.2;q13.3) DMD_003167 translocation disrupting SfiI fragment G-H PubMed: Meitinger 1988, Journal: Meitinger 1988 - - Unknown - - - 0 - Johan den Dunnen DMD - - - - - 54i_60i NM_004006.2:c.(8027+6003_9084+32630)::? - pathogenic (recessive) r.? p.? - - - - - - - - - - - - - - - - - - -
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