Screening #0000151743

Individual ID 00150888
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 27237 7073 2020-08-07 BMD, BMD/DMD, CMD-3B, DMD, hCK



Variants found

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

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     
X Maternal (inferred) +/. - pathogenic (recessive) g.(31191698_31196095)_(31341752_31366718)dup g.(31173581_31177978)_(31323635_31348601)dup dup ex56-60 and 62-71 - DMD_026271 non-contiguous duplication ex56-60 an 62-71 PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen DMD - - - - - 61i_71i NM_004006.2:c.(9118_9187)_(10224-8_10286)dup - - - - - - - - - - - - - - - - - - - - - - -
X Maternal (inferred) +/. - pathogenic (recessive) g.(31366718_31462714)_(31525370_31645938)dup g.(31348601_31444597)_(31507253_31627821)dup dup ex56-60 and 62-71 - DMD_025660 non-contiguous duplication ex56-60 an 62-71 PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen DMD - - - - - 55i_60i NM_004006.2:c.(8069_8390+28)_(8968_9118)dup - r.? p.? - - - - - - - - - - - - - - - - - - - -
Legend