Genomic variant #0000228167

Individual ID 00137131
Chromosome X
Allele Maternal (inferred)
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 chrX:g.(33109254_33109360)_(33268716_38091392)del; c.-244_(31+1_32-1)del
ISCN -
DB-ID DMD_010001 See all 7 reported entries
Variant remarks 159.4 Kb deletion
Reference PubMed: delGaudio 2008
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.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000137971 DNA arrayCGH - - DMD 1 Johan den Dunnen