Genomic variant #0000228293

Individual ID 00137254
Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.(33229611_33357493)_(33229611_?)del
DNA change (hg38) g.(33211494_33339376)_(33211494_?)del
Published as c.-244_(-127947_-245)del
ISCN -
DB-ID DMD_010000
Variant remarks deletion Dp427c (brain) promoter only
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
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_0i c.-244_(-128064_-182)del VUS r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000138094 DNA PCR - - DMD 1 Johan den Dunnen