Variant #0000646861 (NC_000023.10:g.(28200000_28500000)_(31986632_32235032)del, DMD(NM_004006.2):c.(6438+1_6439-1)_*2691{0})

Individual ID 00289040
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.(28200000_28500000)_(31986632_32235032)del
DNA change (hg38) g.(28180000_28480000)_(31968515_32216915)del
Published as -
ISCN -
DB-ID DMD_066681
Variant remarks 3.88 Mb deletion covering IL1RAPL1, GK, NR0B1 and part of DMD
Reference PubMed: Korkut 2016
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
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
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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 +/. 44i_79_ c.(6438+1_6439-1)_*2691{0} r.? p.?
IL1RAPL1 NM_014271.3 +/. - c.0 r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000290209 DNA arrayCGH - - DMD 1 Johan den Dunnen