Genomic variant #0000061567

Individual ID 00034407
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.(25040000_28600000)_(33229674_?)del
DNA change (hg38) -
Published as -
ISCN -
DB-ID DMD_040079 See all 2 reported entries
Variant remarks deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD
Reference PubMed: Zhang 2004, Journal: Zhang 2004
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner 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 +/+ _1_79_ c.-244_*2691{0} r.0 p.0
IL1RAPL1 NM_014271.3 +/+ _1_11 c.0 r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000034474 DNA PCR - - DMD, GK, IL1RAPL1, NR0B1 1 Johan den Dunnen