Variant #0000486557 (NC_000023.10:g.(?_31137345)_(32867938_33038255)del, DMD(NM_004006.2):c.(93+1_94-1)_*2691{0})

Individual ID 00239779
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.(?_31137345)_(32867938_33038255)del
DNA change (hg38) g.(?_31119228)_(32849821_33020138)del
Published as -
ISCN -
DB-ID DMD_050380
Variant remarks -
Reference PubMed: Loke 2009, PubMed: Tomar 2019
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 Poh San Lai
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 +/. 2i_79_ c.(93+1_94-1)_*2691{0} r.? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000240882 DNA PCR - - DMD, GK, NR0B1 1 Johan den Dunnen