Variant #0000229928 (NC_000023.10:g.(33038291_33229612)_(33229612_33357494)dup, DMD(NM_004006.2):c.-244(_-183)_(-183_58){2})

Individual ID 00138887
Chromosome X
Allele Parent #1
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 c.-244_(31+1_32-1)dup
ISCN -
DB-ID DMD_020101 See all 6 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Ieke Ginjaar
Database submission license No license selected
Created by Ieke Ginjaar
Options




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     
0000139727 DNA MLPA - - DMD 2 Ieke Ginjaar