Genomic variant #0000227180

Individual ID 00136145
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_?)del
DNA change (hg38) g.(33020173_33211494)_(33211494_?)del
Published as c.-244_(31+1_32-1)del
ISCN -
DB-ID DMD_010001 See all 7 reported entries
Variant remarks deletion includes Dp427c
Reference Jorge ESHG2006 P1191
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




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
DMD NM_004006.2 +/. _0_1i c.-244_(-182_59)del pathogenic (recessive) r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000136985 DNA MLPA - - DMD 1 Johan den Dunnen