Screening #0000049813

Individual ID 00049892
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 17437 5526 2019-07-21 BMD, BMD/DMD, CMD-3B, DMD



Variants found

2 entries on 1 page. Showing entries 1 - 2.
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     
8 Unknown g.pter_cen_(139900001_146364022)::[chrX:pter_(32533500_32633500)inv] - - t(X;8)(p21.1;q24.3) chr8_000000 translocation PubMed: Meitinger 1988, Journal: Meitinger 1988 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
X Unknown g.[chr8:(139900001_146364022)_qterinv::chrX:(32533500_32633500)_cen_qter] - - t(X;8)(p21.1;q24.3) DMD_003166 translocation disrupting SfiI fragment E-F PubMed: Meitinger 1988, Journal: Meitinger 1988 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen DMD +/+ - - - - - _1_11i NM_004006.2:c.1331+10632::2168+11659) - - r.? p.? - - - - - - - - - - - - - - - - - - - - - - -
Legend