Variant #0000902757 (NC_000023.10:g.(33229673_?)_(32867938_33229398)del, DMD(NM_004006.2):c.-244_(31+1_94-1){0})

Individual ID 00424623
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.(33229673_?)_(32867938_33229398)del
DNA change (hg38) g.(33211556_?)_(32849821_33211281)del
Published as mPCR del ex1
ISCN -
DB-ID DMD_068580
Variant remarks -
Reference PubMed: El Kadiri 2020
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
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     
DMD NM_004006.2 +/. _1_ c.-244_(31+1_94-1){0} r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000425936 DNA PCRm - - DMD 1 Johan den Dunnen