Genomic variant #0000244847

Individual ID 00150811
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.(31838078_31854946)_(31893385_31947815)del
DNA change (hg38) g.(31819961_31836829)_(31875268_31929698)del
Published as del ex48-49 and 51
ISCN -
DB-ID DMD_014849 See all 86 reported entries
Variant remarks non-contiguous deletion ex48-49 and ex51
Reference PubMed: De Almeida 2017
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 Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
DMD NM_004006.2 +/. 47i_49i c.(6810_7018)_(7099-10_7309+14)del pathogenic (recessive) r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000151666 DNA MLPA - - DMD 2 Johan den Dunnen