Screening #0000049809

Individual ID 00049888
Template DNA
Technique MIC;PFGE;Southern
Tissue -
Remarks -
Variants found? 4
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 27237 7073 2020-08-07 BMD, BMD/DMD, CMD-3B, DMD, hCK



Variants found

4 entries on 1 page. Showing entries 1 - 4.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

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     

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     

Legacy protein change     

Protein level     
19 Unknown ?/. - VUS g.(28600001_32400000)_qterdelins[NC_000023.10:pter_(30710794_31354111)inv] - - t(X;19)(p21.2;q12) chr19_000356 translocation PubMed: Meitinger 1988, Journal: Meitinger 1988 - - Unknown - - - 0 - Johan den Dunnen - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Unknown ?/. - VUS g.[NC_000023.10:pter_(30710794_31354111)]delins(28600001_32400000)_qterinv - - t(X;19)(p21.2;q12) chr19_000000 - - - - DUPLICATE record - - - 0 - Johan den Dunnen - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
X Unknown +/+ - pathogenic (recessive) g.pter_(30710794_31354111)delins[NC_000019.9:(28600001_32400000)_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.? - - - - - - - - - - - - - - - - - - - -
X Unknown +/. - pathogenic g.[NC_000019.9:(28600001_32400000)_qterdelinspter_(30710794_31354111)inv - - t(X;19)(p21.2;q12) chrX_000000 - - - - DUPLICATE record - - - 0 - Johan den Dunnen - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
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