Variant #0000646860 (NC_000023.10:g.(29686622_29935580)_(31366752_31462597)del, DMD(NM_004006.2):c.(9084+1_9085-1)_*2691{0})

Individual ID 00289039
Chromosome X
Allele Maternal (inferred)
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.(29686622_29935580)_(31366752_31462597)del
DNA change (hg38) g.(29668505_29917463)_(31348635_31444480)del
Published as -
ISCN -
DB-ID DMD_066680
Variant remarks deletion involving GK and NR0B1 and part of IL1RAPL1 and DMD
Reference PubMed: Korkut 2016
ClinVar ID -
dbSNP ID -
Origin Germline
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 +/. - c.0 r.0 p.0
GK NM_001205019.1 +/. - c.0 r.0 p.0
DMD NM_004006.2 +/. 60i_79_ c.(9084+1_9085-1)_*2691{0} r.? p.?
IL1RAPL1 NM_014271.3 +/. 5i_11_ c.(778+1_779-1)_*80[0] r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000290208 DNA arrayCGH - - DMD, GK, IL1RAPL1, NR0B1 1 Johan den Dunnen