Genomic variant #0000081749

Individual ID 00052360
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.(31525571_31645789)_(31986632_32235032)del
DNA change (hg38) g.(31507454_31627672)_(31968515_32216915)del
Published as del ex44-55
ISCN -
DB-ID DMD_054555 See all 40 reported entries
Variant remarks -
Reference PubMed: Ferreiro 2009, Journal: Ferreiro 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
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 +/. 44i_55i c.(6438+1_6439-1)_(8217+1_8218-1)del pathogenic (recessive) r.(del) p.(del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000052308 DNA PCR;PCRm;MLPA - - DMD 1 Johan den Dunnen