Genomic variant #0000229623

Individual ID 00138582
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
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 15 reported entries
Variant remarks RNA muscle, 2 transcripts 50%
Reference PubMed: Gualandi 2006
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
DMD NM_004006.2 +/. 1i_4i c.(-182_59)_(228_310)dup pathogenic (recessive) r.[=, 32_264dup] p.[=, Asn88_Val89insMetfs*15]



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000139422 DNA;RNA PCRq;SEQ - - DMD 1 Johan den Dunnen