Genomic variant #0000061583

Individual ID 00034422
Chromosome X
Allele Maternal (inferred)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_31138512)_(33229611_?)del
DNA change (hg38) g.(?_31120395)_(33211494_?)del
Published as c.-244_*2691[0]
ISCN -
DB-ID DMD_010079 See all 10 reported entries
Variant remarks del ~4 Mb (L1+, J66-H1-, 754-, cX54+)
Reference PubMed: Chelly 1988, UMD 727 database
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_79_ c.-244_(*1524_?)del pathogenic (recessive) r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000034489 DNA PCRm;Southern;PFGE - - DMD 1 Johan den Dunnen