Genomic variant #0000225763

Individual ID 00134728
Chromosome X
Allele Maternal (inferred)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.[(32867938_33038255)_(33038318_33229398)dup;(33229674_33357376)_(33357726_?)dup]
DNA change (hg38) -
Published as -
ISCN -
DB-ID DMD_030002
Variant remarks non-contiguous duplication exon Dp427c and exon 2
Reference PubMed: Tuffery-Giraud 2009, UMD 2612 database
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Genomic location of variant could not be determined
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
DMD NM_004006.2 +/. _0_2_ c.[(?_-24528297)_(-127947_-245)dup;(31+1_32-1)_(93+1_94-1)dup] pathogenic (recessive) r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000135568 DNA MLPA - - DMD 1 Johan den Dunnen