Variant #0000229386 (NC_000023.10:g.(33038291_33229612)_(33229612_33357494)dup, DMD(NM_004006.2):c.-244(_-183)_(-183_58){2})

Individual ID 00138346
Chromosome X
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
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 duplication Dp427m promoter
Reference PhD thesis A.Esterhuizen (Cape Town), PubMed: Esterhuizen 2014
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 Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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     
0000139186 DNA MLPA - - DMD 1 Johan den Dunnen