Variant #0000645687 (NC_000023.10:g.(32519969_32536192)_(33229612_33357494)del, DMD(NM_004006.2):c.-244(_-183)_(2225_2293-10){0})

Individual ID 00288595
Chromosome X
Allele Maternal (confirmed)
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.(32519969_32536192)_(33229612_33357494)del
DNA change (hg38) g.(32501852_32518075)_(33211495_33339377)del
Published as del ex1-18
ISCN -
DB-ID DMD_010118
Variant remarks -
Reference PubMed: Zimowski 2014
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/180 patients
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_18i c.-244(_-183)_(2225_2293-10){0} r.? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000289763 DNA MLPA - - DMD 1 Johan den Dunnen