Genomic variant #0000225691

Individual ID 00134656
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.(32841459_32862936)_(33038290_33229611)dup
DNA change (hg38) g.(32823342_32844819)_(33020173_33211494)dup
Published as c.(31+1_32-1)_(264+1_265-1)dup
ISCN -
DB-ID DMD_020204 See all 12 reported entries
Variant remarks de novo, in patient
Reference PubMed: Tuffery-Giraud 2009, UMD 1621 database
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
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     
DMD NM_004006.2 +/. 1i_4i c.(-182_59)_(228_310)dup r.(32_264dup) p.(fs*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000135496 DNA MLPA - - DMD 1 Johan den Dunnen