Screening #0000049809

Individual ID 00049888
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 17435 5529 2019-07-19 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     
19 Unknown g.[chr19:pter_cen_(28600001_32400000)::chrX:pter_(30710794_31354111)inv] - - t(X;19)(p21.2;q12) chr19_000356 translocation PubMed: Meitinger 1988, Journal: Meitinger 1988 - - Unknown - - - 0 - Johan den Dunnen - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
X Unknown g.[chr19:(28600001_32400000)_qterinv::chrX:(30710794_31354111)_cen_qterinv] - - t(X;19)(p21.2;q12) DMD_003169 translocation disrupting SfiI fragment I-J PubMed: Meitinger 1988, Journal: Meitinger 1988 - - Unknown - - - 0 - Johan den Dunnen DMD +/+ - - - - - 61i_79_ NM_004006.2:c.(9164-12336_*429242)::? - - r.? p.? - - - - - - - - - - - - - - - - - - - - - - -
Legend