Genomic variant #0000645167

Individual ID 00288078
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_31138512)_(33229611_?)del
DNA change (hg38) g.(?_31120395)_(33211494_?)del
Published as del ex1-79
ISCN -
DB-ID DMD_018079 See all 2 reported entries
Variant remarks -
Reference PubMed: Wang 2019
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency 1/70 cases
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 +/. _1_79 c.(?_-182)_(*1524_?)del pathogenic (recessive) r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000289244 DNA MLPA;SEQ - - DMD 1 Johan den Dunnen