Variant #0000647295 (NC_000023.10:g.(28900000_29008175)_(31496701_31600000)del, DMD(NM_004006.2):c.(8457+1_8669-210)_*2691{0})

Individual ID 00289439
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.(28900000_29008175)_(31496701_31600000)del
DNA change (hg38) -
Published as hg19 29008175–31496701del
ISCN -
DB-ID DMD_066684
Variant remarks 2.49 Mb deletion including IL1RAPL1, DAX1, GK and last 22 exons DMD
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation X-inactivation CpG island 5' CAG repeat AR gene muscle 50:50, blood 63:37
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     
NR0B1 NM_000475.4 +/. - c.0 r.0 p.0
GK NM_001205019.1 +/. - c.0 r.0 p.0
DMD NM_004006.2 +/. _58_79_ c.(8457+1_8669-210)_*2691{0} r.? p.?
IL1RAPL1 NM_014271.3 +/. - c.(82+1_82+200633)_*80[0] r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000290608 DNA arrayCNV - Illumina CytoSNP12 microarray DMD 1 Johan den Dunnen