Genomic variant #0000061566

Individual ID 00034406
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_31138512)_(33229611_?)del
DNA change (hg38) g.(?_31120395)_(33211494_?)del
Published as c.-244_*2691[0]
ISCN -
DB-ID DMD_010079 See all 10 reported entries
Variant remarks deletion incl. IL1RAPL1, NR0B1, GK
Reference PubMed: Zhang 2004
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
NR0B1 NM_000475.4 +/. _1_2_ c.(?_-1)_(*1_?)del - r.0 p.0
GK NM_001205019.1 +/. _1_21_ c.(?_-1)_(*1_?)del - r.0 p.0
DMD NM_004006.2 +/+ _0_79_ c.-244_(*1524_?)del pathogenic (recessive) r.0 p.0
IL1RAPL1 NM_014271.3 +/. _1_11_ c.(?_-1)_(*1_?)del - r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000034473 DNA PCR - - DMD, GK, IL1RAPL1, NR0B1 1 Johan den Dunnen