Variant #0000061579 (NC_000023.10:g.(25000000_28500000)_(33357726_37000000)del, DMD(NM_004006.2):c.0)

Individual ID 00034418
Chromosome X
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.(25000000_28500000)_(33357726_37000000)del
DNA change (hg38) -
Published as -
ISCN -
DB-ID DMD_003415 See all 3 reported entries
Variant remarks ARX/PRRG1 present, IL1RAPL1, NR0B1, GK deleted
Reference PubMed: Piko 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
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     
NR0B1 NM_000475.4 +/+ _1_2_ c.0 r.0 p.0
GK NM_001205019.1 +/+ - c.0 r.0 p.0
DMD NM_004006.2 +/+ _0_79_ c.0 r.0 p.0
IL1RAPL1 NM_014271.3 +/+ - c.0 r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000034485 DNA MLPA - - DMD, GK, IL1RAPL1, NR0B1 1 Johan den Dunnen