Genomic variant #0000244923

Individual ID 00150887
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.(31366718_31462714)_(31747779_31792196)dup
DNA change (hg38) g.(31348601_31444597)_(31729662_31774079)dup
Published as dup ex52-60 and 68-79
ISCN -
DB-ID DMD_025260 See all 2 reported entries
Variant remarks non-contiguous duplication ex52-60 and 68-79
Reference PubMed: De Almeida 2017
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
DMD NM_004006.2 +/. 51i_60i c.(7423_7629)_(8968_9118)dup pathogenic (recessive) r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000151742 DNA MLPA - - DMD 2 Johan den Dunnen