Variant #0000061571 (NC_000023.10:g.(?_25020000)_(32235181_32305645)del, DMD(NM_004006.2):c.(6290+1_6291-1)_(*1_?)del)

Individual ID 00034411
Chromosome X
Allele Unknown
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.(?_25020000)_(32235181_32305645)del
DNA change (hg38) -
Published as -
ISCN -
DB-ID DMD_003417
Variant remarks deletion incl. ARX, IL1RAPL1, NR0B1 (DAX1), GK, DMD (partial)
Reference PubMed: Zhang 2004, Journal: Zhang 2004
ClinVar ID -
dbSNP ID -
Origin Unknown
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     
NR0B1 NM_000475.4 +/+ _1_2_ c.0 r.0 p.0
GK NM_001205019.1 +/+ _1_21_ c.0 r.0 p.0
DMD NM_004006.2 +/+ 43i_79_ c.(6290+1_6291-1)_(*1_?)del r.(6291_*2691del) p.?
IL1RAPL1 NM_014271.3 +/+ _1_11_ c.0 r.0 p.0
ARX NM_139058.2 +/+ _1_5_ c.0 r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000034478 DNA PCR - - ARX, DMD, GK, IL1RAPL1, NR0B1 1 Johan den Dunnen