Variant #0000630708 (NC_000023.10:g.(33038291_33229612)_(33229612_33357494)dup, DMD(NM_004006.2):c.-244(_-183)_(-183_58){2})

Individual ID 00275434
Chromosome X
Allele Unknown
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.(33038291_33229612)_(33229612_33357494)dup
DNA change (hg38) g.(33020174_33211495)_(33211495_33339377)dup
Published as dup ex1 and dup ex3-16
ISCN -
DB-ID DMD_020101 See all 6 reported entries
Variant remarks non-contiguous duplication ex1 and duplication ex3-16
Reference PubMed: Guo 2015
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency 1/613 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DMD NM_004006.2 +/. 0i_1i c.-244(_-183)_(-183_58){2} r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000276594 DNA MLPA - - DMD 2 Johan den Dunnen