Genomic variant #0000628821

Individual ID 00273704
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.(33038290_33229611)_(33229611_33357493)del
DNA change (hg38) g.(33020173_33211494)_(33211494_33339376)del
Published as ex1del, c.-244_31+?del
ISCN -
DB-ID DMD_010101 See all 17 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Emiliano Giardina
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
DMD NM_004006.2 +/. 0i_1i c.-244(_-182)_(-182_59)[0] pathogenic (recessive) r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000274861 DNA MLPA - - DMD 1 Emiliano Giardina