Screening #0000151723

Individual ID 00150868
Template DNA
Technique MLPA
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 26868 7013 2020-07-02 BMD, BMD/DMD, CMD-3B, DMD, hCK



Variants found

2 entries on 1 page. Showing entries 1 - 2.
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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     

Protein level     
X Maternal (inferred) +/. - pathogenic (recessive) g.(31676225_31697577)_(31986532_32235089)del g.(31658108_31679460)_(31968415_32216972)del dup ex40 and del ex45-53 - DMD_014553 non-contiguous duplication ex40 and deletion ex45-53 PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen DMD - - - - - 44i_53i NM_004006.2:c.(6382_6538)_(7787_7909)del - - - - - - - - - - - - - - - - - - - - - -
X Maternal (inferred) +/. - pathogenic (recessive) g.(32360327_32361426)_(32361426_32364201)dup g.(32342210_32343309)_(32343309_32346084)dup dup ex40 and del ex45-53 - DMD_024040 non-contiguous duplication ex40 and deletion ex45-53 PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen DMD - - - - - 39i_40i NM_004006.2:c.(5449-4_5587-23)_(5587-23_5812)dup - r.? p.? - - - - - - - - - - - - - - - - - - -
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