Genomic variant #0000630287

Individual ID 00275013
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.(32867903_33038290)_(33229611_33357493)del
DNA change (hg38) g.(32849786_33020173)_(33211494_33339376)del
Published as del ex1-2
ISCN -
DB-ID DMD_010102 See all 8 reported entries
Variant remarks -
Reference PubMed: Guo 2015
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency 1/613 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 +/. 0i_2i c.-244(_-182)_(59_128)[0] pathogenic (recessive) r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000276173 DNA MLPA - - DMD 1 Johan den Dunnen