Genomic variant #0000228236

Individual ID 00137200
Chromosome X
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.?
DNA change (hg38) -
Published as chrX:g.[(33256170_33256641)_(33268673_33268775)dup; (32711863_32712214)_(33111518_33111742)dup]
ISCN -
DB-ID DMD_030007
Variant remarks non-contiguous duplication exons 1c (12 Kb) and 1m-7 (399 Kb)
Reference PubMed: delGaudio 2008
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_7_ c.[(?_-128297)_(-127947_?)dup; (31+1_32-1)_(649+1_650-1)dup] pathogenic (recessive) r.(?) p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000138040 DNA arrayCGH;MLPA - - DMD 1 Johan den Dunnen