Genomic variant #0000646034

Individual ID 00150868
Chromosome X
Allele Maternal (inferred)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.(31676225_31697577)_(31986532_32235089)del
DNA change (hg38) g.(31658108_31679460)_(31968415_32216972)del
Published as dup ex40 and del ex45-53
ISCN -
DB-ID DMD_014553 See all 138 reported entries
Variant remarks non-contiguous duplication ex40 and deletion ex45-53
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)     

RNA change     

Protein     
DMD NM_004006.2 +/. 44i_53i c.(6382_6538)_(7787_7909)del - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000151723 DNA MLPA - - DMD 2 Johan den Dunnen