Genomic variant #0000228210

Individual ID 00137174
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.(?_31137345)_(33357726_?)del
DNA change (hg38) g.(?_31119228)_(33339609_?)del
Published as hg18 g.(?_31042316)_(33268716_?)del
ISCN -
DB-ID DMD_050080 See all 10 reported entries
Variant remarks >2.3 Mb whole gene deletion
Reference PubMed: del Gaudio 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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
DMD NM_004006.2 +/. _0_79_ c.-244_*2691[0] pathogenic (recessive) r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000138014 DNA arrayCGH - - DMD 1 Johan den Dunnen