Genomic variant #0000578202

Individual ID 00248320
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.33149703_34219033dup
DNA change (hg38) -
Published as 33,149,703-34,219,033dup
ISCN -
DB-ID DMD_046438
Variant remarks duplication brain/muscle promoter unknown consequences
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
DMD NM_004006.2 ?/. _0_1i c.(?_-989604)_(31+79696_32-1)dup VUS r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000249425 DNA arrayCGH - - DMD 1 Johan den Dunnen